A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983338



Internal ID12976134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:84434638..85237665hg38UCSC Ensembl
Innerchr14:84900982..85704009hg19UCSC Ensembl
Innerchr14:83970735..84773762hg18UCSC Ensembl
Innerchr14:83970735..84773762hg17UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg38803028
hg19803028
hg18803028
hg17803028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751288
Supporting Variants
SamplesBEC_64
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983338
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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