A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893022



Internal ID19183842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46092442..46215654hg38UCSC Ensembl
Outerchr17:46086559..46297651hg38UCSC Ensembl
Innerchr17:44169808..44293020hg19UCSC Ensembl
Outerchr17:44163925..44375017hg19UCSC Ensembl
Innerchr17:41525626..41648797hg18UCSC Ensembl
Outerchr17:41519743..41730794hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38211093
hg19211093
hg18211052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792620, essv25788147, essv25789990, essv25790889, essv25789456, essv25792734, essv25788241, essv25788254, essv25789875, essv25792110, essv25787772, essv25793034, essv25792055, essv25787783, essv25787762
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893022
Frequency
Sample Size3017
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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