A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664840



Internal ID9584259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31820468..31822431hg38UCSC Ensembl
chr20:30408271..30410234hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5608939
SamplesNA18550
Known GenesMYLK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664840
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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