A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384757



Internal ID15231727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28176154..28176268hg38UCSC Ensembl
Innerchr6:28176154..28176268hg38UCSC Ensembl
Outerchr6:28175579..28177289hg38UCSC Ensembl
chr6:28143932..28144046hg19UCSC Ensembl
Innerchr6:28143932..28144046hg19UCSC Ensembl
Outerchr6:28143357..28145067hg19UCSC Ensembl
chr6:28251911..28252025hg18UCSC Ensembl
Innerchr6:28251911..28252025hg18UCSC Ensembl
Outerchr6:28251336..28253046hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38115
hg19115
hg18115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652333
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384757
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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