A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2675111

Internal ID4719445
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128470116..128474622hg19UCSC Ensembl
Outerchr7:128469645..128475192hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
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
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2675111
Sample Size1151
Observed Gain0
Observed Loss86
Observed Complex0

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