A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893326



Internal ID19184146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130181715..130334650hg38UCSC Ensembl
Outerchr2:130080351..130492798hg38UCSC Ensembl
Innerchr2:130939288..131092223hg19UCSC Ensembl
Outerchr2:130837924..131250371hg19UCSC Ensembl
Innerchr2:130655758..130808693hg18UCSC Ensembl
Outerchr2:130554394..130966841hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38412448
hg19412448
hg18412448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789449, essv25787848, essv25791548, essv25789945, essv25789357, essv25790206, essv25790939, essv25789217, essv25791644, essv25792919, essv25793021, essv25788688, essv25789405, essv25789860, essv25788170, essv25788707, essv25791400, essv25791726, essv25787899
Samples
Known GenesCCDC115, CCDC74B, CYP4F62P, FAR2P2, IMP4, MED15P9, MZT2B, POTEF, POTEI, PTPN18, SMPD4, TUBA3E
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893326
Frequency
Sample Size3017
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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