A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10524786



Internal ID3049319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64075159..64084844hg38UCSC Ensembl
Innerchr2:64075209..64084794hg38UCSC Ensembl
Outerchr2:64075109..64084894hg38UCSC Ensembl
chr2:64302293..64311978hg19UCSC Ensembl
Innerchr2:64302343..64311928hg19UCSC Ensembl
Outerchr2:64302243..64312028hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg389686
hg199686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591070
Supporting Variants
SamplesHG02682
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10524786
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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