A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585866



Internal ID347445
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275023
Supporting Variants
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)essv2585866
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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