A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275448



Internal ID1668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9142666..9142891hg38UCSC Ensembl
Outerchr19:9141478..9143666hg38UCSC Ensembl
Innerchr19:9253342..9253567hg19UCSC Ensembl
Outerchr19:9252154..9254342hg19UCSC Ensembl
Innerchr19:9114342..9114567hg18UCSC Ensembl
Outerchr19:9113154..9115342hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382189
hg192189
hg182189
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585863, essv2585498
Samples
Known GenesZNF317
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275448
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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