A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790499



Internal ID19169616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20081563..22086343hg38UCSC Ensembl
Innerchr15:20286816..22374294hg19UCSC Ensembl
Innerchr15:18546830..19875658hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382004781
hg192087479
hg181328829
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, LOC727924, NBEAP1, NF1P2, OR4M2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=130
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790499
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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