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dbVar

Database of genomic structural variation

esv8624

Organism: Homo sapiens

Study:estd19 (Ahn et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:43,802

Publication(s):Ahn et al. 2009

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: 1510 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):2,654,196-2,697,997

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv8624	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	2,654,196	2,654,637	2,697,747	2,697,997
esv8624	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187515.1	Chr1\|NT_18 7515.1	-	219,010	258,322	258,572
esv8624	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	2,585,635	2,586,076	2,629,186	2,629,436
esv8624	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	2,575,495	2,575,936	2,619,046	2,619,296

Variant Call Information

Variant Call ID	Type	Method	Analysis
essv31065	copy number loss	Sequencing	Read depth and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv31065	Remapped	Pass	NT_187515.1:g.(?_2 19010)_(258322_258 572)del	GRCh38.p12	Second Pass	NT_187515.1	Chr1\|NT_18 7515.1	-	219,010	258,322	258,572
essv31065	Remapped	Perfect	NC_000001.11:g.(26 54196_2654637)_(26 97747_2697997)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	2,654,196	2,654,637	2,697,747	2,697,997
essv31065	Remapped	Perfect	NC_000001.10:g.(25 85635_2586076)_(26 29186_2629436)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	2,585,635	2,586,076	2,629,186	2,629,436
essv31065	Submitted genomic		NC_000001.9:g.(257 5495_2575936)_(261 9046_2619296)del	NCBI36 (hg18)		NC_000001.9	Chr1	2,575,495	2,575,936	2,619,046	2,619,296

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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