A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695034



Internal ID13698104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131698019..131709517hg38UCSC Ensembl
Innerchr6:131699019..131708517hg38UCSC Ensembl
Outerchr6:131697019..131710517hg38UCSC Ensembl
chr6:132019159..132030657hg19UCSC Ensembl
Innerchr6:132020159..132029657hg19UCSC Ensembl
Outerchr6:132018159..132031657hg19UCSC Ensembl
chr6:132060852..132072350hg18UCSC Ensembl
Innerchr6:132061852..132071350hg18UCSC Ensembl
Outerchr6:132059852..132073350hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3811499
hg1911499
hg1811499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3373672
Supporting Variants
SamplesNA12891
Known GenesCTAGE9, ENPP3, OR2A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695034
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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