A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591040



Internal ID6978368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62460363..62465183hg38UCSC Ensembl
Innerchr2:62460363..62465183hg38UCSC Ensembl
Outerchr2:62459863..62465683hg38UCSC Ensembl
chr2:62687498..62692318hg19UCSC Ensembl
Innerchr2:62687498..62692318hg19UCSC Ensembl
Outerchr2:62686998..62692818hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg384821
hg194821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10522152
SamplesNA18972
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591040
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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