A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787848



Internal ID19162352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130133334..130377276hg38UCSC Ensembl
Innerchr2:130890907..131134849hg19UCSC Ensembl
Innerchr2:130607377..130851319hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38243943
hg19243943
hg18243943
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, PTPN18, SMPD4, TUBA3E
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787848
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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