A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791462



Internal ID19165386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20127329..21029849hg38UCSC Ensembl
Innerchr15:20332582..21235178hg19UCSC Ensembl
Innerchr15:18592596..19499837hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38902521
hg19902597
hg18907242
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892607
Supporting Variants
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=91
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791462
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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