A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792940



Internal ID18833160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36110820..36192375hg38UCSC Ensembl
Innerchr17:34438213..34519762hg19UCSC Ensembl
Innerchr17:31462326..31543875hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3881556
hg1981550
hg1881550
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893001
Supporting Variants
Samples
Known GenesTBC1D3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792940
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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