A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791655



Internal ID19178172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20183714..20418387hg38UCSC Ensembl
Innerchr15:20388967..20623640hg19UCSC Ensembl
Innerchr15:18648981..18883654hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38234674
hg19234674
hg18234674
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892618
Supporting Variants
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791655
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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