Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3845566

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:9,284

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 129 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):81,936,868-81,948,151

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3845566	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	81,937,868 (-1000, +500)	81,947,151 (-500, +1000)
esv3845566	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	82,647,585 (-1000, +500)	82,656,868 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20256383	deletion	HG00234	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,309
essv20256384	deletion	HG02281	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,314

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20256383	Remapped	Perfect	NC_000006.12:g.(81 936868_81938368)_( 81946651_81948151) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	81,937,868 (-1000, +500)	81,947,151 (-500, +1000)
essv20256384	Remapped	Perfect	NC_000006.12:g.(81 936868_81938368)_( 81946651_81948151) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	81,937,868 (-1000, +500)	81,947,151 (-500, +1000)
essv20256383	Submitted genomic		NC_000006.11:g.(82 646585_82648085)_( 82656368_82657868) del	GRCh37 (hg19)		NC_000006.11	Chr6	82,647,585 (-1000, +500)	82,656,868 (-500, +1000)
essv20256384	Submitted genomic		NC_000006.11:g.(82 646585_82648085)_( 82656368_82657868) del	GRCh37 (hg19)		NC_000006.11	Chr6	82,647,585 (-1000, +500)	82,656,868 (-500, +1000)

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.

You are here: NCBI