A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631458



Internal ID7018267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:21207804..21219686hg38UCSC Ensembl
chr13:21781943..21793825hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3811883
hg1911883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv323e214
Supporting Variantsessv14659321, essv14659327, essv14659323, essv14659324, essv14659322, essv14659328, essv14659326, essv14659325
SamplesHG04212, HG03990, HG01607, HG03971, HG03969, HG03949, HG04015, HG03882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631458
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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