A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35010



Internal ID12644360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67925116..68152450hg38UCSC Ensembl
Innerchr4:68790834..69018168hg19UCSC Ensembl
Innerchr4:68473429..68700763hg18UCSC Ensembl
Innerchr4:68619600..68846934hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38227335
hg19227335
hg18227335
hg17227335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979254, essv6986830, essv6986829, essv6979255, essv6979253
SamplesNA18517
Known GenesLOC550113, SYT14L, TMPRSS11A, TMPRSS11F, TMPRSS11GP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35010
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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