esv3645937

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:44
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 158 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):45,710,744-45,710,744

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3645937	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
esv3645937	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	44,339,383	44,339,383

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16196388	sva insertion	SAMN00009089	Sequencing	Read depth and paired-end mapping	Heterozygous	2,585
essv16196389	sva insertion	SAMN00006377	Sequencing	Read depth and paired-end mapping	Heterozygous	2,795
essv16196390	sva insertion	SAMN00009095	Sequencing	Read depth and paired-end mapping	Heterozygous	2,620
essv16196391	sva insertion	SAMN00009102	Sequencing	Read depth and paired-end mapping	Heterozygous	2,537
essv16196392	sva insertion	SAMN00009109	Sequencing	Read depth and paired-end mapping	Heterozygous	2,667
essv16196393	sva insertion	SAMN00006400	Sequencing	Read depth and paired-end mapping	Heterozygous	2,782
essv16196394	sva insertion	SAMN00006537	Sequencing	Read depth and paired-end mapping	Heterozygous	2,790
essv16196395	sva insertion	SAMN00006580	Sequencing	Read depth and paired-end mapping	Heterozygous	2,978
essv16196396	sva insertion	SAMN00006820	Sequencing	Read depth and paired-end mapping	Heterozygous	2,877
essv16196397	sva insertion	SAMN00009116	Sequencing	Read depth and paired-end mapping	Heterozygous	2,761
essv16196398	sva insertion	SAMN00006592	Sequencing	Read depth and paired-end mapping	Heterozygous	2,776
essv16196399	sva insertion	SAMN00009123	Sequencing	Read depth and paired-end mapping	Heterozygous	2,733
essv16196400	sva insertion	SAMN00006599	Sequencing	Read depth and paired-end mapping	Heterozygous	2,772
essv16196401	sva insertion	SAMN00009129	Sequencing	Read depth and paired-end mapping	Heterozygous	2,864
essv16196402	sva insertion	SAMN00009166	Sequencing	Read depth and paired-end mapping	Homozygous	2,634
essv16196403	sva insertion	SAMN00009190	Sequencing	Read depth and paired-end mapping	Heterozygous	2,590
essv16196404	sva insertion	SAMN00009198	Sequencing	Read depth and paired-end mapping	Heterozygous	3,279
essv16196405	sva insertion	SAMN01091108	Sequencing	Read depth and paired-end mapping	Heterozygous	2,887
essv16196406	sva insertion	SAMN00014311	Sequencing	Read depth and paired-end mapping	Heterozygous	2,709
essv16196407	sva insertion	SAMN00014327	Sequencing	Read depth and paired-end mapping	Heterozygous	2,739
essv16196408	sva insertion	SAMN00014330	Sequencing	Read depth and paired-end mapping	Heterozygous	2,804
essv16196409	sva insertion	SAMN00014332	Sequencing	Read depth and paired-end mapping	Heterozygous	2,788
essv16196410	sva insertion	SAMN00014341	Sequencing	Read depth and paired-end mapping	Heterozygous	2,688
essv16196411	sva insertion	SAMN00014342	Sequencing	Read depth and paired-end mapping	Heterozygous	2,805
essv16196412	sva insertion	SAMN00014348	Sequencing	Read depth and paired-end mapping	Heterozygous	2,637
essv16196413	sva insertion	SAMN00249859	Sequencing	Read depth and paired-end mapping	Heterozygous	2,652
essv16196414	sva insertion	SAMN00016857	Sequencing	Read depth and paired-end mapping	Heterozygous	2,797
essv16196415	sva insertion	SAMN00249918	Sequencing	Read depth and paired-end mapping	Heterozygous	2,733
essv16196416	sva insertion	SAMN00249684	Sequencing	Read depth and paired-end mapping	Heterozygous	2,734
essv16196417	sva insertion	SAMN00249687	Sequencing	Read depth and paired-end mapping	Heterozygous	2,706
essv16196418	sva insertion	SAMN00249736	Sequencing	Read depth and paired-end mapping	Heterozygous	2,761
essv16196419	sva insertion	SAMN01091149	Sequencing	Read depth and paired-end mapping	Heterozygous	2,684
essv16196420	sva insertion	SAMN01091012	Sequencing	Read depth and paired-end mapping	Heterozygous	2,805
essv16196421	sva insertion	SAMN01761519	Sequencing	Read depth and paired-end mapping	Heterozygous	2,888
essv16196422	sva insertion	SAMN00800837	Sequencing	Read depth and paired-end mapping	Heterozygous	2,742
essv16196423	sva insertion	SAMN00801646	Sequencing	Read depth and paired-end mapping	Heterozygous	2,822
essv16196424	sva insertion	SAMN00801682	Sequencing	Read depth and paired-end mapping	Heterozygous	2,875
essv16196425	sva insertion	SAMN00001637	Sequencing	Read depth and paired-end mapping	Heterozygous	2,843
essv16196426	sva insertion	SAMN00000539	Sequencing	Read depth and paired-end mapping	Heterozygous	2,789
essv16196427	sva insertion	SAMN00007704	Sequencing	Read depth and paired-end mapping	Heterozygous	2,729
essv16196428	sva insertion	SAMN00007708	Sequencing	Read depth and paired-end mapping	Heterozygous	2,669
essv16196429	sva insertion	SAMN00007785	Sequencing	Read depth and paired-end mapping	Heterozygous	2,501
essv16196430	sva insertion	SAMN00007786	Sequencing	Read depth and paired-end mapping	Heterozygous	2,711
essv16196431	sva insertion	SAMN00006620	Sequencing	Read depth and paired-end mapping	Heterozygous	3,044

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16196388	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196389	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196390	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196391	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196392	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196393	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196394	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196395	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196396	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196397	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196398	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196399	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196400	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196401	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196402	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196403	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196404	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196405	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196406	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196407	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196408	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196409	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196410	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196411	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196412	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196413	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196414	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196415	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196416	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196417	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196418	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196419	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196420	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196421	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196422	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196423	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196424	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196425	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196426	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196427	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196428	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196429	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196430	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196431	Remapped	Perfect	NC_000020.11:g.457 10744_45710745ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,710,744	45,710,744
essv16196388	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196389	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196390	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196391	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196392	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196393	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196394	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196395	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196396	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196397	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196398	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196399	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196400	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196401	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196402	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196403	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196404	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196405	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196406	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196407	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196408	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196409	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196410	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196411	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196412	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196413	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196414	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196415	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196416	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196417	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196418	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196419	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196420	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196421	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196422	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196423	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196424	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196425	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196426	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196427	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196428	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196429	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196430	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383
essv16196431	Submitted genomic		NC_000020.10:g.443 39383_44339384ins?	GRCh37 (hg19)		NC_000020.10	Chr20	44,339,383	44,339,383

dbVar

Database of genomic structural variation

esv3645937

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.