A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585238



Internal ID346817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49861098..49864498hg38UCSC Ensembl
Outerchr17:49859942..49865012hg38UCSC Ensembl
Innerchr17:47938461..47941861hg19UCSC Ensembl
Outerchr17:47937305..47942375hg19UCSC Ensembl
Innerchr17:45293460..45296860hg18UCSC Ensembl
Outerchr17:45292304..45297374hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg385071
hg195071
hg185071
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275063
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)essv2585238
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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