A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585659



Internal ID347238
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275047
Supporting Variants
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)essv2585659
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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