A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275412



Internal ID348318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135287136..135288009hg38UCSC Ensembl
Outerchr5:135277246..135291451hg38UCSC Ensembl
Innerchr5:134622826..134623699hg19UCSC Ensembl
Outerchr5:134612936..134627141hg19UCSC Ensembl
Innerchr5:134650725..134651598hg18UCSC Ensembl
Outerchr5:134640835..134655040hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3814206
hg1914206
hg1814206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585202
Samples
Known GenesC5orf66
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275412
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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