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dbVar

Database of genomic structural variation

esv3848172

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:15,657

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: 206 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):7,525,536-7,541,195

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3848172	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	7,525,537 (-1, +2)	7,541,193 (-1, +2)
esv3848172	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	7,565,168 (-1, +2)	7,580,824 (-1, +2)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20528329	deletion	HG00109	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,672
essv20528330	deletion	HG01880	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,797

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20528329	Remapped	Perfect	NC_000007.14:g.(75 25536_7525539)_(75 41192_7541195)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	7,525,537 (-1, +2)	7,541,193 (-1, +2)
essv20528330	Remapped	Perfect	NC_000007.14:g.(75 25536_7525539)_(75 41192_7541195)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	7,525,537 (-1, +2)	7,541,193 (-1, +2)
essv20528329	Submitted genomic		NC_000007.13:g.(75 65167_7565170)_(75 80823_7580826)del	GRCh37 (hg19)		NC_000007.13	Chr7	7,565,168 (-1, +2)	7,580,824 (-1, +2)
essv20528330	Submitted genomic		NC_000007.13:g.(75 65167_7565170)_(75 80823_7580826)del	GRCh37 (hg19)		NC_000007.13	Chr7	7,565,168 (-1, +2)	7,580,824 (-1, +2)

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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