A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275023



Internal ID347929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29548328..29552315hg38UCSC Ensembl
Outerchr19:29548247..29558235hg38UCSC Ensembl
Innerchr19:30039235..30043222hg19UCSC Ensembl
Outerchr19:30039154..30049142hg19UCSC Ensembl
Innerchr19:34731075..34735062hg18UCSC Ensembl
Outerchr19:34730994..34740982hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg389989
hg199989
hg189989
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585866, essv2586166
Samples
Known GenesVSTM2B
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275023
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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