A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788276



Internal ID18820980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13544627..13695972hg38UCSC Ensembl
Innerchr10:13586627..13737972hg19UCSC Ensembl
Innerchr10:13626633..13777978hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38151346
hg19151346
hg18151346
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891761
Supporting Variants
Samples
Known GenesFRMD4A, PRPF18
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=56
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788276
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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