A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676878



Internal ID9596297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31821463..31823219hg38UCSC Ensembl
Outerchr20:31821092..31823589hg38UCSC Ensembl
Innerchr20:30409266..30411022hg19UCSC Ensembl
Outerchr20:30408895..30411392hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382498
hg192498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6249228, essv6267984, essv5396154, essv6346311, essv5570180, essv5433110, essv6395341, essv6313272
SamplesNA18616, NA18630, NA18539, NA18538, NA18565, NA18560, NA18602, NA18553
Known GenesMYLK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676878
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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