A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675111



Internal ID9594530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128830062..128834568hg38UCSC Ensembl
Outerchr7:128829591..128835138hg38UCSC Ensembl
Innerchr7:128470116..128474622hg19UCSC Ensembl
Outerchr7:128469645..128475192hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg385548
hg195548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5442440, essv5405201, essv5993531, essv6353476, essv6453390, essv5648892, essv5612749, essv5945074, essv6155147, essv6583474, essv6455212, essv6157302, essv6457041, essv5899745, essv5626491, essv5923496, essv6504574, essv5590680, essv5860582, essv5506480, essv6538743, essv6435211, essv6543380, essv5565844, essv6597484, essv6176536, essv5586719, essv5395936, essv6156209, essv5722448, essv5852543, essv5775341, essv5996770, essv6231184, essv5720794, essv5491543, essv5501464, essv6015494, essv5783992, essv5580769, essv5958227, essv6399640, essv6054580, essv5583482, essv5972890, essv6478787, essv6256117, essv5553150, essv5620601, essv5898202, essv5941814, essv6142945, essv5767364, essv5398027, essv6153788, essv5631045, essv5971301, essv6349286, essv5545744, essv6314183, essv5532356, essv5588121, essv5563946, essv5949819, essv6351107, essv6003728, essv6474232, essv5738795, essv6448268, essv6511459, essv6035837, essv5571700, essv6447931, essv5893586, essv6040599, essv5662795, essv6434865, essv5444780, essv5816178, essv5739302, essv6228910, essv6433194, essv6260086, essv6347374, essv6463321, essv5857391
SamplesHG00323, HG00309, HG00313, HG00152, HG00252, HG00318, HG00257, HG00344, HG00328, HG00171, HG00274, HG00245, HG00131, HG00160, HG00310, HG00261, HG00117, HG00326, HG00270, HG00139, HG00122, HG00106, HG00111, HG00280, HG00335, HG00331, HG00146, HG00319, HG00253, HG00156, HG00353, HG00247, HG00256, HG00342, HG00244, HG00266, HG00154, HG00321, HG00339, HG00158, HG00346, HG00250, HG00337, HG00140, HG00259, HG00231, HG00372, HG00141, HG00315, HG00338, HG00150, HG00258, HG00243, HG00254, HG00284, HG00237, HG00343, HG00373, HG00159, HG00268, HG00185, HG00263, HG00260, HG00239, HG00273, HG00282, HG00249, HG00277, HG00329, HG00246, HG00236, HG01334, HG00118, HG00123, HG00281, HG00285, HG00142, HG00119, HG00320, HG00275, HG00336, HG00345, HG00271, HG00278, HG00136, HG00327
Known GenesFLNC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675111
Frequency
Sample Size1151
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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