A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751274



Internal ID12984826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39968445..40117245hg38UCSC Ensembl
Innerchr14:40437649..40586449hg19UCSC Ensembl
Innerchr14:39507400..39656200hg18UCSC Ensembl
Innerchr14:39507400..39656200hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38148801
hg19148801
hg18148801
hg17148801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv84e55
Supporting Variantsessv6989521, essv6989520, essv6981805, essv6981803, essv6981804
SamplesBEC_48
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)esv2751274
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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