A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676161



Internal ID9942266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28692309..28692988hg38UCSC Ensembl
chr17:27019327..27020006hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv542e199
Supporting Variantsessv6162098, essv6361349, essv5474045, essv5800616, essv5785383, essv6000830, essv6210180, essv5502767, essv6379204, essv6424547, essv5989706, essv6102325, essv5578727, essv6583594, essv5964159, essv5647786, essv5411778, essv5894326, essv5888255, essv5401226, essv5746934, essv6507463, essv6064640, essv6068222, essv6484476, essv5450180, essv5441907, essv5407146, essv5889782, essv5981860, essv5748919, essv6098378, essv5485894, essv5875334, essv5792699, essv6583265, essv5509470, essv5676609, essv6108701, essv5877074, essv6240227, essv6101007, essv6012348, essv6442757, essv6182985, essv5699431, essv6350555, essv6318448, essv6200383, essv5714712, essv5696275, essv5400335, essv6534756, essv6300931, essv6403496, essv6365839, essv5522113, essv5836958, essv5502396, essv5766053, essv5467573, essv5807950, essv6522716
SamplesHG01060, NA19055, NA19909, HG00559, NA18980, HG01079, HG00640, HG00566, NA18606, NA19920, NA19067, HG01140, HG00138, HG01070, HG00589, HG01351, HG00689, HG00173, NA18982, NA18635, NA18558, NA18582, NA19384, HG00139, HG00120, HG00534, NA19075, HG00422, HG00160, NA18520, HG00338, HG00178, HG00464, HG00188, HG00731, NA19082, HG00328, NA19462, NA19081, HG00708, NA18566, HG01073, NA19461, NA11893, NA19453, HG00140, NA19009, NA18634, HG01107, NA18546, HG00357, HG00734, NA18941, NA19010, NA19835, HG00473, HG00607, HG01489, HG00269, HG00111, NA20758, HG01125, NA18612
Known GenesSUPT6H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676161
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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