A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668347



Internal ID9934452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69482342..69484338hg38UCSC Ensembl
chr18:67149578..67151574hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg381997
hg191997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6229808, essv5896063, essv5893867, essv5466770, essv6324834, essv5753677, essv6174188, essv6576358
SamplesNA18621, NA19660, NA18916, NA19462, NA19685, NA19440, NA20528, HG01061
Known GenesDOK6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668347
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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