A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984250



Internal ID12629999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22994058..23201315hg38UCSC Ensembl
Innerchr13:23568197..23775454hg19UCSC Ensembl
Innerchr13:22466197..22673454hg18UCSC Ensembl
Innerchr13:22466197..22673454hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38207258
hg19207258
hg18207258
hg17207258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751135
Supporting Variants
SamplesBEC_681
Known GenesSGCG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984250
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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