A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782150



Internal ID18826928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42192689..42224414hg38UCSC Ensembl
Innerchr2:42419829..42451554hg19UCSC Ensembl
Innerchr2:42273333..42305058hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3831726
hg1931726
hg1831726
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891982
Supporting Variants
Samples
Known GenesEML4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782150
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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