A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585324



Internal ID346903
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275304
Supporting Variants
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)essv2585324
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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