A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891050



Internal ID18838760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10836267..11491247hg38UCSC Ensembl
Outerchr7:10836267..11491247hg38UCSC Ensembl
Innerchr7:10875894..11530874hg19UCSC Ensembl
Outerchr7:10875894..11530874hg19UCSC Ensembl
Innerchr7:10842419..11497399hg18UCSC Ensembl
Outerchr7:10842419..11497399hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38654981
hg19654981
hg18654981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789922
Samples
Known GenesNDUFA4, PHF14, THSD7A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891050
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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