A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979255



Internal ID12633194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67932264..68108224hg38UCSC Ensembl
Innerchr4:68797982..68973942hg19UCSC Ensembl
Innerchr4:68480577..68656537hg18UCSC Ensembl
Innerchr4:68626748..68802708hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38175961
hg19175961
hg18175961
hg17175961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35010
Supporting Variants
SamplesNA18517
Known GenesLOC550113, SYT14L, TMPRSS11A, TMPRSS11F, TMPRSS11GP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979255
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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