A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892059



Internal ID19186455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47092181..47111484hg38UCSC Ensembl
Outerchr2:47092181..47111484hg38UCSC Ensembl
Innerchr2:47319320..47338623hg19UCSC Ensembl
Outerchr2:47319320..47338623hg19UCSC Ensembl
Innerchr2:47172824..47192127hg18UCSC Ensembl
Outerchr2:47172824..47192127hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3819304
hg1919304
hg1819304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782833
Samples
Known GenesC2orf61
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892059
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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