A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989263



Internal ID12973953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93271494..93325443hg38UCSC Ensembl
Innerchr13:93923747..93977696hg19UCSC Ensembl
Innerchr13:92721748..92775697hg18UCSC Ensembl
Innerchr13:92721748..92775697hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3853950
hg1953950
hg1853950
hg1753950
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989263
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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