A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3322800



Internal ID14823081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148213568..148213600hg38UCSC Ensembl
Innerchr6:148213577..148213589hg38UCSC Ensembl
Outerchr6:148213545..148213623hg38UCSC Ensembl
chr6:148534704..148534736hg19UCSC Ensembl
Innerchr6:148534713..148534725hg19UCSC Ensembl
Outerchr6:148534681..148534759hg19UCSC Ensembl
chr6:148576397..148576429hg18UCSC Ensembl
Innerchr6:148576418..148576406hg18UCSC Ensembl
Outerchr6:148576374..148576452hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8933685, essv8933684, essv8933686, essv8933683, essv8933680, essv8933679, essv8933682
SamplesNA11920, NA07346, NA11992, NA12156, NA12003, NA12716, NA12763
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3322800
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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