A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791096



Internal ID18829409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46322712..46602841hg38UCSC Ensembl
Innerchr17:44400078..44680207hg19UCSC Ensembl
Innerchr17:41755843..42035523hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38280130
hg19280130
hg18279681
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893023
Supporting Variants
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=74
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791096
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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