A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661463



Internal ID9580882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50420786..50453702hg38UCSC Ensembl
Outerchr19:50420747..50453759hg38UCSC Ensembl
Innerchr19:50924043..50956959hg19UCSC Ensembl
Outerchr19:50924004..50957016hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3833013
hg1933013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6444694, essv6480600, essv5732536, essv5804776, essv5942817, essv5425010, essv5569133, essv6223372, essv5493673, essv5505936, essv5967560, essv5589143
SamplesHG01356, HG00142, NA20294, NA19777, HG00138, HG00311, HG01134, NA19445, HG01073, NA20538, NA19469, HG00267
Known GenesMYBPC2, SPIB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661463
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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