A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12869510



Internal ID2871326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82372925..82379044hg38UCSC Ensembl
Innerchr7:82372925..82379044hg38UCSC Ensembl
Outerchr7:82372425..82379544hg38UCSC Ensembl
chr7:82002241..82008360hg19UCSC Ensembl
Innerchr7:82002241..82008360hg19UCSC Ensembl
Outerchr7:82001741..82008860hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg386120
hg196120
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613907
Supporting Variants
SamplesNA18488
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12869510
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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