A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667840



Internal ID9933945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54249698..54250803hg38UCSC Ensembl
chr20:52866237..52867342hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381106
hg191106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6204651, essv5839376, essv5948483, essv6284841, essv6040910, essv5867270, essv6057938, essv5769337, essv5535967, essv5914609, essv5694223, essv6419837, essv6274609, essv5792888, essv6478724, essv5843685, essv6552140, essv6315948, essv5880753, essv6359960, essv5967467, essv6583587, essv5608697, essv5451195, essv6310644, essv5526167, essv6003299, essv5615015, essv5689988, essv6299613, essv6483888, essv6207429, essv6042917, essv6179901, essv5679436, essv5844676, essv5693373, essv5885184, essv5474576, essv6219017, essv6391209, essv5541874, essv6256091, essv5573088, essv5963104, essv6227541, essv6597151, essv6353324, essv6033297
SamplesHG01173, NA19466, NA19092, NA19355, NA19920, NA18510, NA12341, HG00641, HG01167, NA12891, NA19916, NA07048, HG01083, NA20287, HG01455, NA20340, NA19235, NA19172, NA19901, NA19189, NA19456, NA19445, NA18867, HG00137, NA19437, HG00266, NA19707, NA19462, NA19347, NA12878, NA19982, NA20770, HG01102, NA19461, NA19452, NA20296, NA19435, NA19331, NA20790, HG01375, NA19334, NA20778, HG01108, NA19223, NA19093, NA19102, HG00112, NA20826, NA20322
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667840
Frequency
Sample Size1151
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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