A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986830



Internal ID12633197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67932316..68108216hg38UCSC Ensembl
Innerchr4:68798034..68973934hg19UCSC Ensembl
Innerchr4:68480629..68656529hg18UCSC Ensembl
Innerchr4:68626800..68802700hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38175901
hg19175901
hg18175901
hg17175901
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)essv6986830
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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