A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660350



Internal ID9926455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96252451..96253615hg38UCSC Ensembl
chr6:96700327..96701491hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg381165
hg191165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6080993, essv5898228, essv6597496
SamplesNA18861, NA18916, NA19114
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660350
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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