A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790870



Internal ID18832321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22587582..22925064hg38UCSC Ensembl
Innerchr15:22948004..23285514hg19UCSC Ensembl
Innerchr15:20499445..20836955hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38337483
hg19337511
hg18337511
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892626
Supporting Variants
Samples
Known GenesCYFIP1, GOLGA8I, HERC2P2, LOC283683, NIPA1, NIPA2, WHAMMP3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=68
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790870
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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