A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275304



Internal ID348210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45754973..45755001hg38UCSC Ensembl
Outerchr17:45754720..45757546hg38UCSC Ensembl
Innerchr17:43832339..43832367hg19UCSC Ensembl
Outerchr17:43832086..43834912hg19UCSC Ensembl
Innerchr17:41188110..41188138hg18UCSC Ensembl
Outerchr17:41187857..41190684hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382827
hg192827
hg182828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585324
Samples
Known GenesCRHR1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275304
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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