A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585848



Internal ID347427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23505353..23509850hg38UCSC Ensembl
Outerchr16:23503752..23511452hg38UCSC Ensembl
Innerchr16:23516674..23521171hg19UCSC Ensembl
Outerchr16:23515073..23522773hg19UCSC Ensembl
Innerchr16:23424175..23428672hg18UCSC Ensembl
Outerchr16:23422574..23430274hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg387701
hg197701
hg187701
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275554
Supporting Variants
Samples
Known GenesGGA2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585848
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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