A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675090



Internal ID9941195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21022067..21022415hg38UCSC Ensembl
chr20:21002708..21003056hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5986911, essv5975027, essv5472478, essv6340192, essv5456722, essv5998800, essv6140067, essv5567741, essv6473735, essv5712668, essv5460052, essv5725402, essv6542000, essv6225807, essv5676649, essv6374120, essv6117962, essv6313843, essv5989558, essv6437257, essv5682479, essv6118084, essv6419857, essv6037149, essv5904483, essv6311745, essv6298778, essv6115005, essv6522210, essv5954468, essv5626278, essv6478828, essv5781021, essv6344888, essv5529109, essv6136125, essv6142355, essv6113001, essv6095419, essv5786055, essv5655259, essv6536703, essv6272240, essv6389906, essv5520678, essv5953803, essv5690586, essv6021297, essv6147522, essv6596124, essv5825001, essv5885593, essv5720679, essv5551483, essv6239791, essv6253173, essv6033996, essv5521908, essv6533786, essv5616287, essv6339017, essv5406540, essv5879869
SamplesNA11995, HG00361, HG00242, NA11920, NA12058, HG00737, NA20808, NA12155, NA12341, NA07346, HG01488, NA19723, NA20769, HG00247, NA19782, HG00311, HG01455, HG01072, HG00232, NA12889, NA20811, HG00160, HG00338, HG00159, HG01133, NA20533, NA20515, NA12748, NA20818, NA10847, HG00313, HG00183, NA20505, HG01095, NA19788, HG00275, NA12718, NA11893, HG01197, NA18499, NA12827, HG00152, NA20765, HG01148, NA12775, NA19144, HG00098, HG01494, HG01342, NA06986, HG00312, NA12749, NA12830, NA18609, HG00186, NA20786, NA19726, HG00377, NA20503, NA11892, HG01378, HG01111, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675090
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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