A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678181



Internal ID9944286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8789506..8971020hg38UCSC Ensembl
chr6:8789739..8971253hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38181515
hg19181515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6151215
SamplesHG01075
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678181
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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