A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789444



Internal ID18830215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17858241..18035151hg38UCSC Ensembl
Innerchr2:18039508..18216417hg19UCSC Ensembl
Innerchr2:17902989..18079898hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38176911
hg19176910
hg18176910
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891603
Supporting Variants
Samples
Known GenesKCNS3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=52
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789444
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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