A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668728



Internal ID9934833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128111577..128116453hg38UCSC Ensembl
chr6:128432722..128437598hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg384877
hg194877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5899724, essv5569859, essv5743983, essv5622794, essv6562457
SamplesHG00179, HG00273, HG00377, NA12890, NA19676
Known GenesPTPRK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668728
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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