A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788521



Internal ID18813644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31500343..31591980hg38UCSC Ensembl
Innerchr7:31539957..31631594hg19UCSC Ensembl
Innerchr7:31506482..31598119hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3891638
hg1991638
hg1891638
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891094
Supporting Variants
Samples
Known GenesCCDC129
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788521
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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