A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330598



Internal ID15177587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160612430..160633828hg38UCSC Ensembl
Innerchr6:160613430..160632828hg38UCSC Ensembl
Outerchr6:160611430..160634828hg38UCSC Ensembl
chr6:161033462..161054860hg19UCSC Ensembl
Innerchr6:161034462..161053860hg19UCSC Ensembl
Outerchr6:161032462..161055860hg19UCSC Ensembl
chr6:160953452..160974850hg18UCSC Ensembl
Innerchr6:160954452..160973850hg18UCSC Ensembl
Outerchr6:160952452..160975850hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3821399
hg1921399
hg1821399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3694e59
Supporting Variantsessv8695077
SamplesNA19240
Known GenesLPA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330598
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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