A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892310



Internal ID18836444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24215671..24577193hg38UCSC Ensembl
Outerchr13:24212887..24577193hg38UCSC Ensembl
Innerchr13:24789809..25151331hg19UCSC Ensembl
Outerchr13:24787025..25151331hg19UCSC Ensembl
Innerchr13:23687809..24049331hg18UCSC Ensembl
Outerchr13:23685025..24049331hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38364307
hg19364307
hg18364307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792098, essv25793001
Samples
Known GenesC1QTNF9, PARP4, SPATA13, SPATA13-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892310
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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