A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585620



Internal ID347199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128942118..128942143hg38UCSC Ensembl
Outerchr3:128941845..128944316hg38UCSC Ensembl
Innerchr3:128660961..128660986hg19UCSC Ensembl
Outerchr3:128660688..128663159hg19UCSC Ensembl
Innerchr3:130143651..130143676hg18UCSC Ensembl
Outerchr3:130143378..130145849hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382472
hg192472
hg182472
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275085
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)essv2585620
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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