A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585651



Internal ID347230
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274916
Supporting Variants
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)essv2585651
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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