A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614952



Internal ID7001841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:127159702..127169625hg38UCSC Ensembl
Innerchr7:127159708..127169620hg38UCSC Ensembl
Outerchr7:127159697..127169631hg38UCSC Ensembl
chr7:126799756..126809679hg19UCSC Ensembl
Innerchr7:126799762..126809674hg19UCSC Ensembl
Outerchr7:126799751..126809685hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg389924
hg199924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12961390, essv12961388, essv12961389
SamplesNA12286, HG00158, HG01770
Known GenesGRM8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614952
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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