A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586286



Internal ID6973807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65575243..65578202hg38UCSC Ensembl
Innerchr1:65575248..65578197hg38UCSC Ensembl
Outerchr1:65575238..65578207hg38UCSC Ensembl
chr1:66040926..66043885hg19UCSC Ensembl
Innerchr1:66040931..66043880hg19UCSC Ensembl
Outerchr1:66040921..66043890hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382960
hg192960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9956970, essv9956976, essv9956926, essv9956950, essv9956914, essv9956963, essv9956954, essv9956938, essv9956892, essv9956975, essv9956897, essv9956921, essv9956875, essv9956974, essv9956880, essv9956919, essv9956981, essv9956961, essv9956965, essv9956910, essv9956871, essv9956984, essv9956978, essv9956969, essv9956973, essv9956972, essv9956935, essv9956942, essv9956905, essv9956947, essv9956878, essv9956937, essv9956971, essv9956899, essv9956943, essv9956934, essv9956893, essv9956906, essv9956933, essv9956915, essv9956884, essv9956929, essv9956903, essv9956890, essv9956907, essv9956911, essv9956916, essv9956909, essv9956874, essv9956966, essv9956913, essv9956888, essv9956885, essv9956955, essv9956896, essv9956960, essv9956949, essv9956887, essv9956977, essv9956902, essv9956948, essv9956891, essv9956881, essv9956962, essv9956944, essv9956951, essv9956936, essv9956932, essv9956883, essv9956928, essv9956925, essv9956940, essv9956920, essv9956930, essv9956879, essv9956908, essv9956876, essv9956886, essv9956983, essv9956945, essv9956968, essv9956922, essv9956956, essv9956941, essv9956882, essv9956873, essv9956946, essv9956923, essv9956889, essv9956924, essv9956980, essv9956979, essv9956904, essv9956894, essv9956982, essv9956927, essv9956967, essv9956939, essv9956952, essv9956953, essv9956985, essv9956900, essv9956931, essv9956898, essv9956877, essv9956917, essv9956918, essv9956959, essv9956901, essv9956872, essv9956912, essv9956964, essv9956895, essv9956957, essv9956958
SamplesHG02574, HG02944, NA19700, HG02610, NA18508, HG03111, NA18507, HG03057, HG02852, HG02836, NA18917, HG02891, HG02323, NA18878, HG02624, HG03172, HG03069, HG03478, NA19374, NA19171, HG03086, NA19315, HG03135, HG02810, HG03452, NA19448, HG02952, HG02325, HG02860, HG00736, HG02854, HG03246, HG03105, HG01063, HG03224, NA19904, NA19130, HG02562, NA19923, HG02703, HG02561, HG02573, HG03212, HG02461, HG02642, HG03380, HG02623, NA19456, HG02882, HG03369, NA20318, HG02716, HG01171, HG03061, HG03088, HG01104, HG02582, NA19152, NA19327, NA19913, NA19043, HG02144, HG01941, HG01880, HG02976, HG03294, HG03202, HG03078, HG02881, HG03024, NA19099, NA19338, HG03391, NA19452, HG01890, NA19225, HG01286, HG02586, HG02896, HG03109, HG02675, HG02282, HG02807, HG03240, HG03461, HG02721, HG03458, NA19331, NA19380, NA19835, NA19334, NA19439, HG02941, NA19310, HG03304, HG01933, HG02464, HG02095, HG03063, HG03060, HG02462, HG03410, NA18876, NA19116, HG03077, HG03445, HG02947, HG02855, NA19129, HG03198, HG02629, HG02643, HG03303, HG02343, HG01191
Known GenesLEPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586286
Frequency
Sample Size2504
Observed Gain0
Observed Loss115
Observed Complex0
Frequencyn/a


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