A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784763



Internal ID19162772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133025530..133068785hg38UCSC Ensembl
Innerchr2:133783103..133826358hg19UCSC Ensembl
Innerchr2:133499573..133542828hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3843256
hg1943256
hg1843256
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893392
Supporting Variants
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784763
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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