A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891094



Internal ID18838804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31500343..31591980hg38UCSC Ensembl
Outerchr7:31500343..31591980hg38UCSC Ensembl
Innerchr7:31539957..31631594hg19UCSC Ensembl
Outerchr7:31539957..31631594hg19UCSC Ensembl
Innerchr7:31506482..31598119hg18UCSC Ensembl
Outerchr7:31506482..31598119hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3891638
hg1991638
hg1891638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788521
Samples
Known GenesCCDC129
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891094
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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