A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981495



Internal ID12625517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110396652..110468652hg38UCSC Ensembl
Innerchr13:111048999..111120999hg19UCSC Ensembl
Innerchr13:109847000..109919000hg18UCSC Ensembl
Innerchr13:109847000..109919000hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3872001
hg1972001
hg1872001
hg1772001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751128
Supporting Variants
SamplesBEC_280
Known GenesCOL4A2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981495
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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