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dbVar

Database of genomic structural variation

esv3850244

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:39,291

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: 267 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):84,570,343-84,610,022

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3850244	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	84,570,550 (-207, +0)	84,609,840 (-0, +182)
esv3850244	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	84,199,866 (-207, +0)	84,239,156 (-0, +182)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20754323	deletion	HG02537	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,175
essv20754324	deletion	HG04054	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,819

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20754323	Remapped	Perfect	NC_000007.14:g.(84 570343_84570550)_( 84609840_84610022) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	84,570,550 (-207, +0)	84,609,840 (-0, +182)
essv20754324	Remapped	Perfect	NC_000007.14:g.(84 570343_84570550)_( 84609840_84610022) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	84,570,550 (-207, +0)	84,609,840 (-0, +182)
essv20754323	Submitted genomic		NC_000007.13:g.(84 199659_84199866)_( 84239156_84239338) del	GRCh37 (hg19)		NC_000007.13	Chr7	84,199,866 (-207, +0)	84,239,156 (-0, +182)
essv20754324	Submitted genomic		NC_000007.13:g.(84 199659_84199866)_( 84239156_84239338) del	GRCh37 (hg19)		NC_000007.13	Chr7	84,199,866 (-207, +0)	84,239,156 (-0, +182)

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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