A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893304



Internal ID18837438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127634972..127643416hg38UCSC Ensembl
Outerchr2:127634972..127643416hg38UCSC Ensembl
Innerchr2:128392547..128400991hg19UCSC Ensembl
Outerchr2:128392547..128400991hg19UCSC Ensembl
Innerchr2:128109017..128117461hg18UCSC Ensembl
Outerchr2:128109017..128117461hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg388445
hg198445
hg188445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796165
Samples
Known GenesLIMS2, MYO7B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893304
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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