A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788083



Internal ID18825928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66809968..67401188hg38UCSC Ensembl
Innerchr7:66274955..66866175hg19UCSC Ensembl
Innerchr7:65912390..66503610hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38591221
hg19591221
hg18591221
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891136
Supporting Variants
Samples
Known GenesGTF2IRD1P1, LOC101929736, MIR4650-1, MIR4650-2, PMS2P4, RABGEF1, SBDS, STAG3L4, TMEM248, TYW1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=62
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788083
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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