A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613895



Internal ID6654103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82048188..82054508hg38UCSC Ensembl
Innerchr7:82048238..82054458hg38UCSC Ensembl
Outerchr7:82048138..82054558hg38UCSC Ensembl
chr7:81677504..81683824hg19UCSC Ensembl
Innerchr7:81677554..81683774hg19UCSC Ensembl
Outerchr7:81677454..81683874hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg386321
hg196321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12868953, essv12868952, essv12868951
SamplesHG02477, NA18933, HG02314
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613895
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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