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dbVar

Database of genomic structural variation

esv3766729

Organism: Homo sapiens

Study:estd192 (COSMIC)
Variant Type:tandem duplication
Method Type:Curated
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:1

Description:Chr6:g.44793065_48647826dupinschr11.o72427834_
o72427751inschr6:o44793063_o44793014
Publication(s):Forbes et al. 2008, Forbes et al. 2008, Stephens et al. 2009

Links to Other Resources

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: 42 SVs from 15 studies. See in: genome view

Remapped(Score: Perfect):44,825,277-44,825,277

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3766729	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	44,825,277	44,825,277
esv3766729	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	44,825,326	44,825,326
esv3766729	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	44,825,328	44,825,328
esv3766729	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	48,680,092	48,680,092
esv3766729	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	72,716,706	72,716,706
esv3766729	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	72,716,789	72,716,789
esv3766729	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	44,793,014	44,793,014
esv3766729	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	44,793,063	44,793,063
esv3766729	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	44,793,065	44,793,065
esv3766729	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	48,647,826	48,647,826
esv3766729	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	72,427,751	72,427,751
esv3766729	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	72,427,834	72,427,834

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv16631604	intrachromosomal translocation	1126080	Curated	Curated	9
essv16585808	interchromosomal translocation	1126080	Curated	Curated	9
essv16645629	interchromosomal translocation	1126080	Curated	Curated	9

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
essv16631604	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	44,825,277	44,825,277	not reported
essv16585808	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	44,825,326	44,825,326	not reported
essv16631604	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	44,825,328	44,825,328	-
essv16645629	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	48,680,092	48,680,092	-
essv16585808	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	72,716,706	72,716,706	not reported
essv16645629	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	72,716,789	72,716,789	not reported
essv16631604	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	44,793,014	44,793,014	not reported
essv16585808	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	44,793,063	44,793,063	not reported
essv16631604	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	44,793,065	44,793,065	-
essv16645629	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	48,647,826	48,647,826	-
essv16585808	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	72,427,751	72,427,751	not reported
essv16645629	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	72,427,834	72,427,834	not reported

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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