A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987372



Internal ID12981803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:102009649..102013649hg38UCSC Ensembl
Innerchr13:102661999..102665999hg19UCSC Ensembl
Innerchr13:101460000..101464000hg18UCSC Ensembl
Innerchr13:101460000..101464000hg17UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg384001
hg194001
hg184001
hg174001
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)essv6987372
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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