A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695304



Internal ID15092464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43293536..43295034hg38UCSC Ensembl
Innerchr6:43294034..43294536hg38UCSC Ensembl
Outerchr6:43292536..43296034hg38UCSC Ensembl
chr6:43261274..43262772hg19UCSC Ensembl
Innerchr6:43261772..43262274hg19UCSC Ensembl
Outerchr6:43260274..43263772hg19UCSC Ensembl
chr6:43369252..43370750hg18UCSC Ensembl
Innerchr6:43370252..43369750hg18UCSC Ensembl
Outerchr6:43368252..43371750hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362078
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695304
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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