A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10524759



Internal ID1933073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63764231..63767796hg38UCSC Ensembl
Innerchr2:63764261..63767767hg38UCSC Ensembl
Outerchr2:63764202..63767826hg38UCSC Ensembl
chr2:63991365..63994930hg19UCSC Ensembl
Innerchr2:63991395..63994901hg19UCSC Ensembl
Outerchr2:63991336..63994960hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg383566
hg193566
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591064
Supporting Variants
SamplesHG01801
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10524759
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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