A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662028



Internal ID9581447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21141432..21143324hg38UCSC Ensembl
chr20:21122073..21123965hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381893
hg191893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6277431, essv5643528
SamplesHG01188, NA19257
Known GenesPLK1S1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662028
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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