A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585377



Internal ID346956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:145640731..145656509hg38UCSC Ensembl
Outerchr5:145637058..145657369hg38UCSC Ensembl
Innerchr5:145020294..145036072hg19UCSC Ensembl
Outerchr5:145016621..145036932hg19UCSC Ensembl
Innerchr5:145000487..145016265hg18UCSC Ensembl
Outerchr5:144996814..145017125hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3820312
hg1920312
hg1820312
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275206
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585377
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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