A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668086



Internal ID9934191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:3914050..3915513hg38UCSC Ensembl
Outerchr20:3914013..3915563hg38UCSC Ensembl
Innerchr20:3894697..3896160hg19UCSC Ensembl
Outerchr20:3894660..3896210hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381551
hg191551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5828572, essv6158627
SamplesNA19904, NA20765
Known GenesPANK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668086
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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