A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978314



Internal ID12981780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:102001779..102015412hg38UCSC Ensembl
Innerchr13:102654129..102667762hg19UCSC Ensembl
Innerchr13:101452130..101465763hg18UCSC Ensembl
Innerchr13:101452130..101465763hg17UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3813634
hg1913634
hg1813634
hg1713634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34672
Supporting Variants
SamplesNA19000
Known GenesFGF14
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978314
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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