A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590003



Internal ID6977331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20904452..20931361hg38UCSC Ensembl
Innerchr2:20904465..20931348hg38UCSC Ensembl
Outerchr2:20904439..20931374hg38UCSC Ensembl
chr2:21104212..21131121hg19UCSC Ensembl
Innerchr2:21104225..21131108hg19UCSC Ensembl
Outerchr2:21104199..21131134hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3826910
hg1926910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv679e214
Supporting Variantsessv10425731, essv10425733, essv10425732
SamplesHG01080, HG01205, HG01086
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590003
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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