A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584978



Internal ID6972502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:777664..820586hg38UCSC Ensembl
chr1:713044..755966hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3842923
hg1942923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9839190, essv9839231, essv9839187, essv9839161, essv9839145, essv9839228, essv9839083, essv9839209, essv9839132, essv9839142, essv9839042, essv9839053, essv9839079, essv9839117, essv9839127, essv9839200, essv9839050, essv9839068, essv9839080, essv9839181, essv9839052, essv9839081, essv9839114, essv9839212, essv9839156, essv9839072, essv9839128, essv9839230, essv9839073, essv9839205, essv9839088, essv9839103, essv9839167, essv9839094, essv9839049, essv9839153, essv9839221, essv9839097, essv9839227, essv9839048, essv9839173, essv9839170, essv9839197, essv9839141, essv9839139, essv9839219, essv9839099, essv9839064, essv9839063, essv9839165, essv9839198, essv9839051, essv9839115, essv9839091, essv9839044, essv9839226, essv9839100, essv9839232, essv9839045, essv9839241, essv9839059, essv9839238, essv9839095, essv9839189, essv9839222, essv9839137, essv9839070, essv9839126, essv9839236, essv9839146, essv9839210, essv9839166, essv9839107, essv9839188, essv9839129, essv9839122, essv9839149, essv9839217, essv9839067, essv9839229, essv9839055, essv9839136, essv9839183, essv9839086, essv9839043, essv9839234, essv9839121, essv9839069, essv9839057, essv9839085, essv9839163, essv9839074, essv9839233, essv9839082, essv9839218, essv9839169, essv9839060, essv9839108, essv9839176, essv9839047, essv9839182, essv9839084, essv9839078, essv9839158, essv9839110, essv9839131, essv9839112, essv9839087, essv9839106, essv9839203, essv9839140, essv9839090, essv9839239, essv9839116, essv9839148, essv9839075, essv9839147, essv9839164, essv9839171, essv9839120, essv9839062, essv9839061, essv9839178, essv9839104, essv9839096, essv9839046, essv9839220, essv9839235, essv9839040, essv9839193, essv9839184, essv9839237, essv9839105, essv9839135, essv9839202, essv9839224, essv9839118, essv9839113, essv9839130, essv9839174, essv9839177, essv9839157, essv9839155, essv9839054, essv9839125, essv9839160, essv9839144, essv9839134, essv9839211, essv9839150, essv9839152, essv9839092, essv9839159, essv9839179, essv9839240, essv9839065, essv9839215, essv9839206, essv9839058, essv9839196, essv9839138, essv9839162, essv9839076, essv9839175, essv9839119, essv9839213, essv9839208, essv9839180, essv9839204, essv9839111, essv9839056, essv9839098, essv9839214, essv9839207, essv9839191, essv9839199, essv9839225, essv9839101, essv9839109, essv9839041, essv9839123, essv9839102, essv9839168, essv9839154, essv9839223, essv9839133, essv9839216, essv9839192, essv9839066, essv9839185, essv9839089, essv9839077, essv9839151, essv9839201, essv9839143, essv9839186, essv9839172, essv9839124, essv9839195, essv9839071, essv9839093, essv9839194
SamplesHG03812, HG01986, HG01746, HG01413, NA20761, HG03484, NA21111, NA21089, NA20766, NA18947, HG01438, NA11995, HG03731, HG01359, HG03687, HG00766, HG03015, HG02419, HG00457, HG00306, HG02798, NA20532, NA18639, HG04094, HG00181, HG02017, NA20332, HG01971, HG03515, NA20808, NA20346, NA20507, HG02734, HG02384, HG00879, HG03944, NA20359, NA12750, NA07357, NA20806, HG00663, HG01571, NA19792, HG01682, HG02952, HG02383, NA18635, NA18567, HG03905, NA18916, HG02299, NA11918, HG03234, NA18571, HG00355, HG01840, HG01365, NA19782, NA19904, NA20291, HG02111, NA19079, HG02562, NA20539, HG00277, HG03826, HG02561, HG00867, NA20278, HG03189, HG00148, HG02512, NA20812, HG01259, NA20889, NA20811, HG04185, NA18990, NA18557, HG01709, HG02623, HG01626, NA19025, HG04029, HG02477, NA19200, HG00675, HG03862, HG01565, HG00543, HG00133, NA12777, HG03343, HG02442, HG01784, NA18951, HG03844, NA20892, HG01867, NA20858, NA19070, HG03511, HG01871, NA20524, NA19006, HG03718, HG01384, HG00557, HG02334, HG01857, HG01669, NA20505, NA21119, NA12872, NA20885, HG00475, HG01088, HG02775, HG00344, HG01119, HG03805, NA18572, HG01880, HG02878, HG00692, HG01092, HG00740, HG01390, NA18573, HG00273, HG01512, NA19449, NA21124, HG00690, NA21141, NA20859, HG03858, HG02577, NA19031, NA18553, HG02724, HG00463, HG04159, HG01865, HG03774, NA20534, NA21143, HG02813, NA19375, HG02807, NA18535, HG03240, NA21144, HG02223, NA19712, NA18564, NA19749, HG02220, HG03899, HG03695, HG01958, NA12873, NA20792, HG03870, HG01798, NA19083, NA21094, HG00620, HG04141, HG02181, NA21125, HG02398, HG00614, HG00513, HG02373, HG00446, HG02401, HG01868, HG01028, HG03733, HG02079, HG02392, HG02116, NA21101, HG02113, HG03615, HG02768, HG00131, NA18972, HG03401, HG02353, NA07056, HG02028, NA18989, HG03611, HG02808, HG00362, HG00255, NA18620, HG03196, HG01747, HG00593
Known GenesFAM87B, LOC100288069
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584978
Frequency
Sample Size2504
Observed Gain202
Observed Loss0
Observed Complex0
Frequencyn/a


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