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dbVar

Database of genomic structural variation

esv3844052

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:4
Validation:Not tested
Clinical Assertions: No
Region Size:13,269

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: 124 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):24,957,487-24,970,808

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3844052	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	24,957,513 (-26, +27)	24,970,781 (-26, +27)
esv3844052	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	24,957,741 (-26, +27)	24,971,009 (-26, +27)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20005261	deletion	HG03823	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,265
essv20005262	deletion	HG03908	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,566
essv20005263	deletion	NA20853	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv20005264	deletion	NA21123	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,569

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20005261	Remapped	Perfect	NC_000006.12:g.(24 957487_24957540)_( 24970755_24970808) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	24,957,513 (-26, +27)	24,970,781 (-26, +27)
essv20005262	Remapped	Perfect	NC_000006.12:g.(24 957487_24957540)_( 24970755_24970808) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	24,957,513 (-26, +27)	24,970,781 (-26, +27)
essv20005263	Remapped	Perfect	NC_000006.12:g.(24 957487_24957540)_( 24970755_24970808) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	24,957,513 (-26, +27)	24,970,781 (-26, +27)
essv20005264	Remapped	Perfect	NC_000006.12:g.(24 957487_24957540)_( 24970755_24970808) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	24,957,513 (-26, +27)	24,970,781 (-26, +27)
essv20005261	Submitted genomic		NC_000006.11:g.(24 957715_24957768)_( 24970983_24971036) del	GRCh37 (hg19)		NC_000006.11	Chr6	24,957,741 (-26, +27)	24,971,009 (-26, +27)
essv20005262	Submitted genomic		NC_000006.11:g.(24 957715_24957768)_( 24970983_24971036) del	GRCh37 (hg19)		NC_000006.11	Chr6	24,957,741 (-26, +27)	24,971,009 (-26, +27)
essv20005263	Submitted genomic		NC_000006.11:g.(24 957715_24957768)_( 24970983_24971036) del	GRCh37 (hg19)		NC_000006.11	Chr6	24,957,741 (-26, +27)	24,971,009 (-26, +27)
essv20005264	Submitted genomic		NC_000006.11:g.(24 957715_24957768)_( 24970983_24971036) del	GRCh37 (hg19)		NC_000006.11	Chr6	24,957,741 (-26, +27)	24,971,009 (-26, +27)

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.

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