A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427454



Internal ID15274410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28176087..28176365hg38UCSC Ensembl
Innerchr6:28176137..28176315hg38UCSC Ensembl
Outerchr6:28176037..28176415hg38UCSC Ensembl
chr6:28143865..28144143hg19UCSC Ensembl
Innerchr6:28143915..28144093hg19UCSC Ensembl
Outerchr6:28143815..28144193hg19UCSC Ensembl
chr6:28251844..28252122hg18UCSC Ensembl
Innerchr6:28251894..28252072hg18UCSC Ensembl
Outerchr6:28251794..28252172hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741236
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427454
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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