A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632179



Internal ID7018989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56374994..56430389hg38UCSC Ensembl
chr13:56949128..57004523hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3855396
hg1955396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv335e214
Supporting Variantsessv14741363, essv14741364, essv14741367, essv14741365, essv14741366
SamplesNA20332, NA18510, HG02678, NA19318, NA19360
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632179
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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