A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984531



Internal ID12630454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43108864..43242464hg38UCSC Ensembl
Innerchr13:43683000..43816600hg19UCSC Ensembl
Innerchr13:42581000..42714600hg18UCSC Ensembl
Innerchr13:42581000..42714600hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38133601
hg19133601
hg18133601
hg17133601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751145
Supporting Variants
SamplesBEC_715
Known GenesDNAJC15, ENOX1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984531
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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