A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791098



Internal ID19163460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20081563..22303801hg38UCSC Ensembl
Innerchr15:20286816..22591752hg19UCSC Ensembl
Innerchr15:18546830..20093116hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382222239
hg192304937
hg181546287
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, REREP3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=149
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791098
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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