A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891603



Internal ID18839313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17858241..18035151hg38UCSC Ensembl
Outerchr2:17752895..18037489hg38UCSC Ensembl
Innerchr2:18039508..18216417hg19UCSC Ensembl
Outerchr2:17934162..18218755hg19UCSC Ensembl
Innerchr2:17902989..18079898hg18UCSC Ensembl
Outerchr2:17797643..18082236hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38284595
hg19284594
hg18284594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788911, essv25787850, essv25789444, essv25789422, essv25790588, essv25790314, essv25789040, essv25788978, essv25789889
Samples
Known GenesGEN1, KCNS3, MSGN1, SMC6
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891603
Frequency
Sample Size3017
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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