A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672388



Internal ID9591807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79598419..79600625hg38UCSC Ensembl
Outerchr16:79598048..79600995hg38UCSC Ensembl
Innerchr16:79632316..79634522hg19UCSC Ensembl
Outerchr16:79631945..79634892hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
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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