A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275047



Internal ID347953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132190664..132195816hg38UCSC Ensembl
Outerchr8:132190597..132196119hg38UCSC Ensembl
Innerchr8:133202911..133208063hg19UCSC Ensembl
Outerchr8:133202844..133208366hg19UCSC Ensembl
Innerchr8:133272093..133277245hg18UCSC Ensembl
Outerchr8:133272026..133277548hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg385523
hg195523
hg185523
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585659, essv2586111
Samples
Known GenesKCNQ3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275047
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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