A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989519



Internal ID12973962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93264100..93336385hg38UCSC Ensembl
Innerchr13:93916353..93988638hg19UCSC Ensembl
Innerchr13:92714354..92786639hg18UCSC Ensembl
Innerchr13:92714354..92786639hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3872286
hg1972286
hg1872286
hg1772286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751156
Supporting Variants
SamplesBEC_48
Known GenesGPC6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989519
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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