A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8928404



Internal ID13747696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27272556..27272588hg38UCSC Ensembl
Innerchr6:27272565..27272577hg38UCSC Ensembl
Outerchr6:27272533..27272611hg38UCSC Ensembl
chr6:27240335..27240367hg19UCSC Ensembl
Innerchr6:27240344..27240356hg19UCSC Ensembl
Outerchr6:27240312..27240390hg19UCSC Ensembl
chr6:27348314..27348346hg18UCSC Ensembl
Innerchr6:27348335..27348323hg18UCSC Ensembl
Outerchr6:27348291..27348369hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3357704
Supporting Variants
SamplesNA18489
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8928404
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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