A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585196



Internal ID89
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168841354..168841683hg38UCSC Ensembl
Outerchr5:168840902..168843239hg38UCSC Ensembl
Innerchr5:168268359..168268688hg19UCSC Ensembl
Outerchr5:168267907..168270244hg19UCSC Ensembl
Innerchr5:168200937..168201266hg18UCSC Ensembl
Outerchr5:168200485..168202822hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg382338
hg192338
hg182338
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275423
Supporting Variants
Samples
Known GenesSLIT3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585196
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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