A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787783



Internal ID19170620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46272724hg38UCSC Ensembl
Innerchr17:44165803..44350090hg19UCSC Ensembl
Innerchr17:41521621..41705867hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38184288
hg19184288
hg18184247
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893022
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787783
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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