A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796717



Internal ID18814209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68459705..68514828hg38UCSC Ensembl
Innerchr2:68686837..68741960hg19UCSC Ensembl
Innerchr2:68540341..68595464hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3855124
hg1955124
hg1855124
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892603
Supporting Variants
Samples
Known GenesAPLF, FBXO48
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=8
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796717
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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