A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751286



Internal ID12638152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:82599694..82737313hg38UCSC Ensembl
Innerchr14:83066038..83203657hg19UCSC Ensembl
Innerchr14:82135791..82273410hg18UCSC Ensembl
Innerchr14:82135791..82273410hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38137620
hg19137620
hg18137620
hg17137620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987943, essv6981348
SamplesBEC_389
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751286
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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