A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981348



Internal ID12626525
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 StatusS
Merged Variantsesv2751286
Supporting Variants
SamplesBEC_389
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981348
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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