A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789489



Internal ID18828668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31337755..31437668hg38UCSC Ensembl
Innerchr7:31377369..31477282hg19UCSC Ensembl
Innerchr7:31343894..31443807hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3899914
hg1999914
hg1899914
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891092
Supporting Variants
Samples
Known GenesNEUROD6
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=31
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789489
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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