A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666771



Internal ID9586190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22845000..22845497hg38UCSC Ensembl
chr16:22856321..22856818hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6326769, essv5914652, essv6482894, essv6541348, essv5643435, essv6390816, essv6031897, essv5628140, essv6514885, essv6164934, essv6419275, essv5737775, essv5487591, essv6093281, essv6100573, essv5426448, essv6190271, essv5468681, essv5811590, essv5679669, essv6084638, essv6215224, essv6052591, essv5854363, essv6409570, essv5586371, essv6435242, essv6553520, essv5823199, essv5912688, essv5402319, essv5584967, essv6096811, essv5986239, essv6088717, essv6481067, essv5723396, essv5702086, essv5973157, essv5443812, essv5670528, essv5709364, essv6429650, essv6390014, essv6186855, essv5963649, essv6500943, essv5572803, essv5439175, essv6064771, essv5454287, essv5707909
SamplesNA19701, NA19700, HG01462, NA19399, NA19704, NA19443, NA19381, NA19076, NA18940, HG00702, HG00610, NA19062, NA19457, NA19384, NA19404, NA18874, HG01170, HG01072, NA19372, NA19235, NA19172, NA19317, NA18986, NA18990, NA18520, NA19445, NA19451, NA19437, HG01095, HG00657, HG00475, NA19982, NA18910, NA19064, NA19449, NA18856, NA19469, NA19318, NA19625, HG01107, NA18576, HG01148, NA20276, NA19712, NA19473, NA19470, NA19360, NA19398, NA19468, HG00595, HG00554, NA19074
Known GenesHS3ST2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666771
Frequency
Sample Size1151
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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