A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666737



Internal ID9932842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17289460..17298218hg38UCSC Ensembl
chr22:17770350..17779108hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg388759
hg198759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv815e199
Supporting Variantsessv5471905, essv6411681, essv5922118, essv5401783, essv6064120, essv6109709, essv6500687, essv5915369, essv6354386, essv6171810, essv5544931, essv6423277, essv6504815, essv5622239, essv5561637, essv6119242, essv6243619, essv6389941, essv5741399, essv5477849, essv6356755, essv6032983, essv5415502, essv6117292, essv6161376, essv6524975, essv6233178, essv5624598, essv5657400, essv5848640, essv5417382, essv5808453, essv6579146, essv6219203, essv6024776, essv6231141, essv6164330, essv5922161, essv5898084, essv6319764, essv5702429, essv5673426, essv6377577, essv5868897, essv5614706, essv5440803, essv6170691, essv5625452, essv6087105, essv6382685, essv5445222, essv6414902, essv6277496, essv6567254, essv6379964, essv5555755, essv6508695, essv6193696, essv6414932, essv5924909, essv5669532, essv5752703, essv5848333, essv6378369, essv6063025
SamplesNA20588, HG01441, HG01173, HG01356, HG01462, HG01359, HG01052, HG01079, HG01188, HG01389, HG00640, HG00318, HG01465, HG01456, HG00737, HG01051, HG01140, HG00337, HG01350, HG01070, HG01351, HG01488, HG01168, HG01492, HG00736, HG01083, HG00158, HG01134, HG00139, HG00277, HG01069, HG01080, HG00335, NA20340, HG00637, HG00326, HG01550, HG00154, HG00731, HG01360, HG01171, HG00732, HG01095, HG00740, HG01047, HG01383, HG01204, HG01075, HG01148, HG01357, HG01494, HG01113, HG01489, HG01491, HG00259, HG01254, HG01055, HG00310, HG00274, HG01377, HG01112, HG01097, HG00554, HG00553, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666737
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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