A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984248



Internal ID12630000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22969919..23197057hg38UCSC Ensembl
Innerchr13:23544058..23771196hg19UCSC Ensembl
Innerchr13:22442058..22669196hg18UCSC Ensembl
Innerchr13:22442058..22669196hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38227139
hg19227139
hg18227139
hg17227139
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984248
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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