A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790889



Internal ID19163302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46092442..46215654hg38UCSC Ensembl
Innerchr17:44169808..44293020hg19UCSC Ensembl
Innerchr17:41525626..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38123213
hg19123213
hg18123172
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893022
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790889
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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