A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611852



Internal ID6652067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2719771..2731488hg38UCSC Ensembl
Innerchr7:2719771..2731488hg38UCSC Ensembl
Outerchr7:2719271..2731988hg38UCSC Ensembl
chr7:2759405..2771122hg19UCSC Ensembl
Innerchr7:2759405..2771122hg19UCSC Ensembl
Outerchr7:2758905..2771622hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3811718
hg1911718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12668856, essv12668860, essv12668857, essv12668861, essv12668859, essv12668858
SamplesHG00182, NA19917, NA19908, NA12272, HG00142, HG00272
Known GenesGNA12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611852
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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