A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586023



Internal ID916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11057974..11058364hg38UCSC Ensembl
Outerchr19:11053013..11066732hg38UCSC Ensembl
Innerchr19:11168650..11169040hg19UCSC Ensembl
Outerchr19:11163689..11177408hg19UCSC Ensembl
Innerchr19:11029650..11030040hg18UCSC Ensembl
Outerchr19:11024689..11038408hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3813720
hg1913720
hg1813720
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275095
Supporting Variants
Samples
Known GenesSMARCA4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586023
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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