A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788170



Internal ID18816337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130132812..130334650hg38UCSC Ensembl
Innerchr2:130890385..131092223hg19UCSC Ensembl
Innerchr2:130606855..130808693hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38201839
hg19201839
hg18201839
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893326
Supporting Variants
Samples
Known GenesCCDC74B, MED15P9, MZT2B, SMPD4, TUBA3E
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788170
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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