A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586049



Internal ID347628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235124425..235124475hg38UCSC Ensembl
Outerchr1:235117248..235136057hg38UCSC Ensembl
Innerchr1:235287740..235287790hg19UCSC Ensembl
Outerchr1:235280563..235299372hg19UCSC Ensembl
Innerchr1:233354363..233354413hg18UCSC Ensembl
Outerchr1:233347186..233365995hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3818810
hg1918810
hg1818810
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275126
Supporting Variants
Samples
Known GenesRBM34, SNORA14B, TOMM20
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586049
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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