A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791723



Internal ID18833274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46322712..46489976hg38UCSC Ensembl
Innerchr17:44400078..44567342hg19UCSC Ensembl
Innerchr17:41755843..41922658hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38167265
hg19167265
hg18166816
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893017
Supporting Variants
Samples
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=48
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791723
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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