A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979253



Internal ID12633190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67925116..68152416hg38UCSC Ensembl
Innerchr4:68790834..69018134hg19UCSC Ensembl
Innerchr4:68473429..68700729hg18UCSC Ensembl
Innerchr4:68619600..68846900hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38227301
hg19227301
hg18227301
hg17227301
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979253
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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