A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789922



Internal ID18835935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10836267..11491247hg38UCSC Ensembl
Innerchr7:10875894..11530874hg19UCSC Ensembl
Innerchr7:10842419..11497399hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38654981
hg19654981
hg18654981
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891050
Supporting Variants
Samples
Known GenesNDUFA4, PHF14, THSD7A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=215
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789922
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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