A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892993



Internal ID18837127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101281409..101650795hg38UCSC Ensembl
Outerchr2:101281409..101650795hg38UCSC Ensembl
Innerchr2:101897871..102267257hg19UCSC Ensembl
Outerchr2:101897871..102267257hg19UCSC Ensembl
Innerchr2:101264303..101633689hg18UCSC Ensembl
Outerchr2:101264303..101633689hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38369387
hg19369387
hg18369387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788452
Samples
Known GenesCREG2, MIR5696, RFX8, RNF149
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892993
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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