A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788452



Internal ID18829593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101281409..101650795hg38UCSC Ensembl
Innerchr2:101897871..102267257hg19UCSC Ensembl
Innerchr2:101264303..101633689hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38369387
hg19369387
hg18369387
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892993
Supporting Variants
Samples
Known GenesCREG2, MIR5696, RFX8, RNF149
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=70
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788452
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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