A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275127



Internal ID348033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:30576965..30577126hg38UCSC Ensembl
Outerchr19:30576747..30582351hg38UCSC Ensembl
Innerchr19:31067872..31068033hg19UCSC Ensembl
Outerchr19:31067654..31073258hg19UCSC Ensembl
Innerchr19:35759712..35759873hg18UCSC Ensembl
Outerchr19:35759494..35765098hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385605
hg195605
hg185605
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585443, essv2585453
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275127
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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