A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751288



Internal ID12984840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:84348986..85237703hg38UCSC Ensembl
Innerchr14:84815330..85704047hg19UCSC Ensembl
Innerchr14:83885083..84773800hg18UCSC Ensembl
Innerchr14:83885083..84773800hg17UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg38888718
hg19888718
hg18888718
hg17888718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983337, essv6989773, essv6989359, essv6983338
SamplesBEC_64
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751288
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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