A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989419



Internal ID12977897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83535033..83573800hg38UCSC Ensembl
Innerchr13:84109168..84147935hg19UCSC Ensembl
Innerchr13:83007169..83045936hg18UCSC Ensembl
Innerchr13:83007169..83045936hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3838768
hg1938768
hg1838768
hg1738768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751153
Supporting Variants
SamplesBEC_814
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989419
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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