A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612014



Internal ID6652229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6083376..6088614hg38UCSC Ensembl
Innerchr7:6083376..6088614hg38UCSC Ensembl
Outerchr7:6082876..6089114hg38UCSC Ensembl
chr7:6123007..6128245hg19UCSC Ensembl
Innerchr7:6123007..6128245hg19UCSC Ensembl
Outerchr7:6122507..6128745hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg385239
hg195239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12672189, essv12672135, essv12672122, essv12672242, essv12672176, essv12672227, essv12672187, essv12672139, essv12672118, essv12672180, essv12672129, essv12672235, essv12672171, essv12672204, essv12672177, essv12672232, essv12672131, essv12672234, essv12672207, essv12672173, essv12672133, essv12672219, essv12672223, essv12672112, essv12672226, essv12672192, essv12672121, essv12672230, essv12672216, essv12672103, essv12672158, essv12672196, essv12672107, essv12672218, essv12672178, essv12672181, essv12672161, essv12672123, essv12672244, essv12672168, essv12672190, essv12672162, essv12672102, essv12672120, essv12672142, essv12672113, essv12672174, essv12672116, essv12672163, essv12672236, essv12672239, essv12672222, essv12672159, essv12672228, essv12672157, essv12672184, essv12672185, essv12672231, essv12672127, essv12672186, essv12672193, essv12672110, essv12672128, essv12672167, essv12672111, essv12672229, essv12672150, essv12672206, essv12672191, essv12672126, essv12672195, essv12672144, essv12672233, essv12672148, essv12672202, essv12672164, essv12672217, essv12672198, essv12672130, essv12672215, essv12672172, essv12672105, essv12672211, essv12672208, essv12672194, essv12672214, essv12672166, essv12672245, essv12672119, essv12672238, essv12672114, essv12672109, essv12672154, essv12672199, essv12672101, essv12672153, essv12672141, essv12672134, essv12672175, essv12672155, essv12672240, essv12672212, essv12672200, essv12672205, essv12672243, essv12672147, essv12672210, essv12672138, essv12672183, essv12672140, essv12672188, essv12672115, essv12672220, essv12672224, essv12672106, essv12672146, essv12672117, essv12672221, essv12672132, essv12672170, essv12672125, essv12672203, essv12672104, essv12672149, essv12672197, essv12672213, essv12672182, essv12672124, essv12672225, essv12672169, essv12672151, essv12672156, essv12672136, essv12672137, essv12672246, essv12672201, essv12672165, essv12672241, essv12672179, essv12672209, essv12672152, essv12672145, essv12672108, essv12672143, essv12672237, essv12672160
SamplesHG03514, HG02890, HG03366, HG01412, NA19703, NA19909, HG03548, NA19204, NA19914, HG02973, HG02702, HG03175, HG03247, HG03449, NA18877, HG02891, NA18486, HG02870, HG02323, HG03280, NA20298, NA19393, NA18504, HG03515, HG03297, HG03172, HG02536, NA19443, NA19190, HG03372, NA19920, NA18510, HG03478, NA19107, HG03168, HG03099, HG03499, HG02952, HG02325, HG02840, HG02620, NA18916, HG02854, NA19197, HG03246, NA19457, HG02111, HG02981, NA19038, HG03209, HG02315, NA19137, NA19235, HG02642, HG03352, NA19901, NA18520, HG02946, HG02545, HG03394, NA18867, HG03369, HG03048, HG02009, HG02442, HG03120, HG02820, HG03054, HG03160, HG03363, NA18934, HG02511, NA19327, NA19455, NA19043, NA18516, HG01345, NA20126, HG02014, HG03027, HG02878, HG01889, HG02757, NA19118, NA18879, NA18499, HG03388, NA18856, NA18853, HG03391, HG02979, NA19257, HG02666, HG02635, HG02594, HG02675, HG01990, HG02772, NA19401, HG02667, HG03240, NA19834, NA19108, HG03367, NA20276, NA19019, HG02308, HG02983, NA19037, HG03458, NA19331, NA20351, NA18865, NA19334, HG03259, HG02982, NA19428, HG03103, NA19475, NA20357, NA19323, HG01086, NA19117, HG03432, NA19248, HG03112, NA19438, HG03313, HG02107, HG03063, NA19185, HG03351, NA19900, HG02051, NA19121, NA19030, HG02947, HG02861, HG01464, NA19129, NA18488, HG03072, HG02805, HG02284, HG02808, NA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612014
Frequency
Sample Size2504
Observed Gain0
Observed Loss146
Observed Complex0
Frequencyn/a


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