A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668143



Internal ID9934248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1664580..1671186hg38UCSC Ensembl
Outerchr7:1664109..1671556hg38UCSC Ensembl
Innerchr7:1704216..1710822hg19UCSC Ensembl
Outerchr7:1703745..1711192hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg387448
hg197448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6435554, essv6560360, essv5774452, essv5417993, essv6343087, essv6346233, essv6492542, essv6352604, essv6354270, essv5898310, essv6464559, essv5616558, essv6584862, essv6151354, essv6161325, essv5859315, essv6254434, essv6496549, essv5854867, essv6173634, essv5835058, essv6118041, essv6565174, essv6180321, essv6298926, essv6549498, essv6384631, essv6518285, essv6471923, essv6372341, essv5642558, essv5942476, essv6174360, essv5797776, essv5759508, essv6480749, essv6523467, essv5673603, essv6282695, essv6476142, essv5623722, essv5980906, essv6182416, essv6553437, essv5957660, essv5894425, essv5451845, essv5867088, essv6310215, essv5981776, essv5477320, essv6420844, essv6252501, essv5480106, essv5989725, essv5701556, essv6037035, essv6574312, essv6065639, essv6371573, essv6143376, essv5675020, essv6090965, essv5462234, essv6276330, essv6278866, essv5489668, essv6564999, essv5855833, essv6566476, essv5712407, essv5925842, essv6126191, essv5775713, essv6480478, essv5851306, essv5534214, essv5610816, essv6577626
SamplesHG01060, HG01441, HG01173, HG01356, HG01462, HG01359, HG01052, HG01079, HG01188, HG01389, HG01374, HG01066, HG00640, HG01465, HG00737, HG01461, HG01051, HG01140, HG00641, HG01350, HG01366, HG01070, HG01351, HG01167, HG01492, HG00736, HG01354, HG01083, HG01365, HG01134, HG01069, HG01080, HG01067, HG01170, HG01072, HG01176, HG01440, HG01198, HG01048, HG01353, HG01183, HG01136, HG01187, HG01171, HG01384, HG00732, HG01095, HG01498, HG01149, HG00740, HG01390, HG01047, HG01102, HG01073, HG01197, HG01383, HG01182, HG01101, HG01204, HG01075, HG01148, HG01190, HG00734, HG01357, HG01174, HG01375, HG01113, HG01108, HG01489, HG01342, HG01491, HG01055, HG01377, HG01378, HG01082, HG01097, HG01191, HG01437, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668143
Frequency
Sample Size1151
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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