A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787899



Internal ID18826361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130132812..130344964hg38UCSC Ensembl
Innerchr2:130890385..131102537hg19UCSC Ensembl
Innerchr2:130606855..130819007hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38212153
hg19212153
hg18212153
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893326
Supporting Variants
Samples
Known GenesCCDC115, CCDC74B, IMP4, MED15P9, MZT2B, SMPD4, TUBA3E
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=29
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787899
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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