A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585806



Internal ID347385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39719981..39720514hg38UCSC Ensembl
Outerchr17:39719950..39720553hg38UCSC Ensembl
Innerchr17:37876234..37876767hg19UCSC Ensembl
Outerchr17:37876203..37876806hg19UCSC Ensembl
Innerchr17:35129760..35130293hg18UCSC Ensembl
Outerchr17:35129729..35130332hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275276
Supporting Variants
Samples
Known GenesERBB2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585806
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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