A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788977



Internal ID18825636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:58247917..59978884hg38UCSC Ensembl
Innerchr13:58822051..60553018hg19UCSC Ensembl
Innerchr13:57720052..59451019hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg381730968
hg191730968
hg181730968
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892363
Supporting Variants
Samples
Known GenesDIAPH3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=345
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788977
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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