A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429372



Internal ID15276328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12514281..12514281hg38UCSC Ensembl
Innerchr6:12514280..12514282hg38UCSC Ensembl
Outerchr6:12514231..12514331hg38UCSC Ensembl
chr6:12514513..12514513hg19UCSC Ensembl
Innerchr6:12514512..12514514hg19UCSC Ensembl
Outerchr6:12514463..12514563hg19UCSC Ensembl
chr6:12622499..12622499hg18UCSC Ensembl
Innerchr6:12622500..12622498hg18UCSC Ensembl
Outerchr6:12622449..12622549hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38401
hg19401
hg18401
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653479, essv8653481, essv8653480
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429372
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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