A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981801



Internal ID12973947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93260746..93325446hg38UCSC Ensembl
Innerchr13:93912999..93977699hg19UCSC Ensembl
Innerchr13:92711000..92775700hg18UCSC Ensembl
Innerchr13:92711000..92775700hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3864701
hg1964701
hg1864701
hg1764701
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)essv6981801
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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