A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751275



Internal ID12984827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39968471..40139120hg38UCSC Ensembl
Innerchr14:40437675..40608324hg19UCSC Ensembl
Innerchr14:39507426..39678075hg18UCSC Ensembl
Innerchr14:39507426..39678075hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38170650
hg19170650
hg18170650
hg17170650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv84e55
Supporting Variantsessv6980731, essv6989195, essv6987842, essv6980732, essv6980733
SamplesBEC_126
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)esv2751275
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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