A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893403



Internal ID18837537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133198640..133353352hg38UCSC Ensembl
Outerchr2:133198640..133353352hg38UCSC Ensembl
Innerchr2:133956212..134110924hg19UCSC Ensembl
Outerchr2:133956212..134110924hg19UCSC Ensembl
Innerchr2:133672682..133827394hg18UCSC Ensembl
Outerchr2:133672682..133827394hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38154713
hg19154713
hg18154713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782282
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893403
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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