A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586032



Internal ID925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:138156343..138160454hg38UCSC Ensembl
Outerchr6:138155062..138163792hg38UCSC Ensembl
Innerchr6:138477480..138481591hg19UCSC Ensembl
Outerchr6:138476199..138484929hg19UCSC Ensembl
Innerchr6:138519173..138523284hg18UCSC Ensembl
Outerchr6:138517892..138526622hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg388731
hg198731
hg188731
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275212
Supporting Variants
Samples
Known GenesKIAA1244
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586032
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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