A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981802



Internal ID12973948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93266246..93301246hg38UCSC Ensembl
Innerchr13:93918499..93953499hg19UCSC Ensembl
Innerchr13:92716500..92751500hg18UCSC Ensembl
Innerchr13:92716500..92751500hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3835001
hg1935001
hg1835001
hg1735001
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)essv6981802
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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