A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660714



Internal ID9580133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9188763..9189244hg38UCSC Ensembl
chr20:9169410..9169891hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6428887, essv5720049, essv5944071, essv5958883, essv5716589, essv5917864, essv5893817, essv5470630, essv6341433, essv5459860, essv5555971, essv6144792, essv5711029
SamplesNA19914, NA18596, NA19446, HG01170, NA18613, HG01171, NA18630, HG00708, HG01107, NA18559, HG00656, NA19213, NA19431
Known GenesPLCB4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660714
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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