A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632990



Internal ID7019800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85690414..85694359hg38UCSC Ensembl
chr13:86264549..86268494hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg383946
hg193946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14826997, essv14826990, essv14826993, essv14826998, essv14826994, essv14826996, essv14826995, essv14826991, essv14826992
SamplesHG01098, HG04038, HG00355, HG03851, HG02252, HG01628, HG02104, HG04029, HG02220
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632990
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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