A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751273



Internal ID12984825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39943591..40117245hg38UCSC Ensembl
Innerchr14:40412795..40586449hg19UCSC Ensembl
Innerchr14:39482546..39656200hg18UCSC Ensembl
Innerchr14:39482546..39656200hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38173655
hg19173655
hg18173655
hg17173655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv84e55
Supporting Variantsessv6989498, essv6990138, essv6990137, essv6985749
SamplesSPC_4
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)esv2751273
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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