A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789189



Internal ID19174724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120752683..120798372hg38UCSC Ensembl
Innerchr2:121510259..121555948hg19UCSC Ensembl
Innerchr2:121226729..121272418hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3845690
hg1945690
hg1845690
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893215
Supporting Variants
Samples
Known GenesGLI2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789189
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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