A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893359



Internal ID18837493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131384194..131498280hg38UCSC Ensembl
Outerchr2:131299593..131540895hg38UCSC Ensembl
Innerchr2:132141767..132255853hg19UCSC Ensembl
Outerchr2:132057166..132298468hg19UCSC Ensembl
Innerchr2:131858237..131972323hg18UCSC Ensembl
Outerchr2:131773636..132014938hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38241303
hg19241303
hg18241303
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25800658, essv25789434, essv25797567
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893359
Frequency
Sample Size3017
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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