A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672388



Internal ID4716722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79632316..79634522hg19UCSC Ensembl
Outerchr16:79631945..79634892hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6278123, essv6009497, essv5694459, essv5994837, essv6114538, essv6108832, essv6585118, essv5827609, essv5424579, essv6017177, essv6233089, essv5558064, essv5444543, essv5499194, essv6262203, essv6254882, essv6595624, essv6527369, essv6133185, essv5396566, essv5829410, essv5913306, essv5420058, essv5888403, essv5523014, essv6251216, essv5794942, essv5703102, essv5963917, essv5779288, essv5929844, essv5716926, essv6376084, essv6476234, essv5768756, essv5512945, essv6072204, essv6276081, essv5660657, essv6212901, essv6226177, essv5762470, essv5484354, essv6004648, essv6365243, essv6554713
SamplesHG01357, HG01441, HG01359, HG01440, HG01250, HG01353, HG01342, HG01389, HG01365, HG01492, HG01488, HG01491, HG01350, HG01461, HG01134, HG01551, HG01254, HG01550, HG01148, HG01384, HG01140, HG01456, HG01375, HG01378, HG01495, HG01124, HG01360, HG01113, HG01136, HG01437, HG01465, HG01356, HG01351, HG01494, HG01383, HG01149, HG01112, HG01390, HG01366, HG01125, HG01498, HG01374, HG01462, HG01489, HG01377, HG01354
Known GenesMAF
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672388
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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