A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275344



Internal ID348250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13948734..13949656hg38UCSC Ensembl
Outerchr17:13947573..13950856hg38UCSC Ensembl
Innerchr17:13852051..13852973hg19UCSC Ensembl
Outerchr17:13850890..13854173hg19UCSC Ensembl
Innerchr17:13792776..13793698hg18UCSC Ensembl
Outerchr17:13791615..13794898hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg383284
hg193284
hg183284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585692
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)esv275344
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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