A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791208



Internal ID18815167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:146648284..147684244hg38UCSC Ensembl
Innerchr2:147405852..148441812hg19UCSC Ensembl
Innerchr2:147122322..148158282hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg381035961
hg191035961
hg181035961
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893481
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=138
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791208
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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