A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695305



Internal ID15052529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43293536..43295334hg38UCSC Ensembl
Innerchr6:43294334..43294536hg38UCSC Ensembl
Outerchr6:43292536..43296334hg38UCSC Ensembl
chr6:43261274..43263072hg19UCSC Ensembl
Innerchr6:43262072..43262274hg19UCSC Ensembl
Outerchr6:43260274..43264072hg19UCSC Ensembl
chr6:43369252..43371050hg18UCSC Ensembl
Innerchr6:43370252..43370050hg18UCSC Ensembl
Outerchr6:43368252..43372050hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424174
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695305
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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