A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632974



Internal ID7019784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85267985..85276621hg38UCSC Ensembl
chr13:85842120..85850756hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg388637
hg198637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14822960, essv14822961, essv14822958, essv14822962, essv14822963, essv14822965, essv14822959, essv14822964, essv14822957
SamplesHG02610, HG02419, NA20317, NA20318, HG01161, HG03755, HG02586, HG02721, HG02861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632974
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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