A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791130



Internal ID18815421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:7598031..7700323hg38UCSC Ensembl
Innerchr11:7619262..7721870hg19UCSC Ensembl
Innerchr11:7575838..7678446hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38102293
hg19102609
hg18102609
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891925
Supporting Variants
Samples
Known GenesCYB5R2, OVCH2, PPFIBP2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=53
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791130
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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