A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987613



Internal ID12630448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43110364..43244364hg38UCSC Ensembl
Innerchr13:43684500..43818500hg19UCSC Ensembl
Innerchr13:42582500..42716500hg18UCSC Ensembl
Innerchr13:42582500..42716500hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38134001
hg19134001
hg18134001
hg17134001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751145
Supporting Variants
SamplesBEC_715
Known GenesENOX1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987613
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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