A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675124



Internal ID9941229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85663245..85664210hg38UCSC Ensembl
chr6:86372963..86373928hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38966
hg19966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6102056, essv5833350, essv6140861, essv5998749, essv6458133, essv6366335
SamplesHG00736, HG00346, NA12889, HG00731, NA18630, HG01390
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675124
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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