A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782282



Internal ID18830851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133198640..133353352hg38UCSC Ensembl
Innerchr2:133956212..134110924hg19UCSC Ensembl
Innerchr2:133672682..133827394hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38154713
hg19154713
hg18154713
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893403
Supporting Variants
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782282
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer