A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274916



Internal ID347876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:147213005..147216569hg38UCSC Ensembl
Outerchr6:147209618..147218434hg38UCSC Ensembl
Innerchr6:147534141..147537705hg19UCSC Ensembl
Outerchr6:147530754..147539570hg19UCSC Ensembl
Innerchr6:147575834..147579398hg18UCSC Ensembl
Outerchr6:147572447..147581263hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg388817
hg198817
hg188817
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585763, essv2585651
Samples
Known GenesSTXBP5
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274916
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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