A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792200



Internal ID19164854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20087555..22226678hg38UCSC Ensembl
Innerchr15:20292808..22514629hg19UCSC Ensembl
Innerchr15:18552822..20015993hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382139124
hg192221822
hg181463172
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, OR4N3P, OR4N4, POTEB, POTEB2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=147
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792200
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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