A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606958



Internal ID6647200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140842689..140859762hg38UCSC Ensembl
Innerchr5:140843189..140859262hg38UCSC Ensembl
Outerchr5:140841689..140860762hg38UCSC Ensembl
chr5:140222274..140239347hg19UCSC Ensembl
Innerchr5:140222774..140238847hg19UCSC Ensembl
Outerchr5:140221274..140240347hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3817074
hg1917074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12077153, essv12077060, essv12077240, essv12077151, essv12077141, essv12077127, essv12077104, essv12077113, essv12077052, essv12077130, essv12077255, essv12077269, essv12077184, essv12077047, essv12077088, essv12077061, essv12077188, essv12077172, essv12077070, essv12077154, essv12077103, essv12077305, essv12077170, essv12077236, essv12077049, essv12077218, essv12077212, essv12077128, essv12077098, essv12077193, essv12077097, essv12077045, essv12077292, essv12077059, essv12077291, essv12077038, essv12077205, essv12077273, essv12077284, essv12077207, essv12077191, essv12077115, essv12077099, essv12077074, essv12077200, essv12077120, essv12077253, essv12077063, essv12077256, essv12077144, essv12077222, essv12077243, essv12077079, essv12077092, essv12077048, essv12077220, essv12077276, essv12077234, essv12077162, essv12077203, essv12077210, essv12077065, essv12077238, essv12077267, essv12077211, essv12077182, essv12077254, essv12077125, essv12077268, essv12077108, essv12077139, essv12077054, essv12077159, essv12077067, essv12077090, essv12077122, essv12077294, essv12077040, essv12077165, essv12077136, essv12077177, essv12077306, essv12077262, essv12077171, essv12077242, essv12077105, essv12077071, essv12077174, essv12077230, essv12077216, essv12077283, essv12077100, essv12077196, essv12077261, essv12077275, essv12077241, essv12077094, essv12077287, essv12077147, essv12077152, essv12077089, essv12077053, essv12077087, essv12077078, essv12077077, essv12077277, essv12077251, essv12077181, essv12077046, essv12077066, essv12077266, essv12077209, essv12077175, essv12077296, essv12077204, essv12077163, essv12077301, essv12077167, essv12077226, essv12077111, essv12077164, essv12077082, essv12077129, essv12077206, essv12077239, essv12077202, essv12077107, essv12077142, essv12077260, essv12077037, essv12077286, essv12077057, essv12077106, essv12077121, essv12077189, essv12077250, essv12077073, essv12077044, essv12077149, essv12077101, essv12077069, essv12077295, essv12077229, essv12077076, essv12077213, essv12077289, essv12077302, essv12077293, essv12077231, essv12077257, essv12077134, essv12077208, essv12077285, essv12077080, essv12077185, essv12077124, essv12077308, essv12077126, essv12077244, essv12077158, essv12077137, essv12077058, essv12077263, essv12077155, essv12077051, essv12077112, essv12077290, essv12077300, essv12077072, essv12077180, essv12077259, essv12077198, essv12077282, essv12077224, essv12077228, essv12077217, essv12077161, essv12077116, essv12077272, essv12077160, essv12077281, essv12077156, essv12077288, essv12077258, essv12077085, essv12077083, essv12077140, essv12077183, essv12077093, essv12077264, essv12077225, essv12077186, essv12077179, essv12077248, essv12077303, essv12077062, essv12077064, essv12077265, essv12077271, essv12077199, essv12077201, essv12077114, essv12077102, essv12077095, essv12077118, essv12077235, essv12077190, essv12077157, essv12077081, essv12077096, essv12077133, essv12077169, essv12077176, essv12077192, essv12077146, essv12077138, essv12077135, essv12077068, essv12077310, essv12077075, essv12077132, essv12077091, essv12077110, essv12077247, essv12077109, essv12077131, essv12077150, essv12077252, essv12077042, essv12077221, essv12077055, essv12077270, essv12077039, essv12077166, essv12077278, essv12077249, essv12077233, essv12077223, essv12077298, essv12077304, essv12077178, essv12077056, essv12077280, essv12077246, essv12077173, essv12077119, essv12077227, essv12077245, essv12077237, essv12077279, essv12077215, essv12077274, essv12077123, essv12077232, essv12077297, essv12077219, essv12077043, essv12077187, essv12077299, essv12077195, essv12077117, essv12077168, essv12077143, essv12077086, essv12077307, essv12077145, essv12077041, essv12077309, essv12077214, essv12077148, essv12077197, essv12077084, essv12077050, essv12077194
SamplesNA19394, NA18502, HG01485, NA20339, HG01462, NA20766, NA18861, NA10851, NA21100, HG02029, HG02661, HG00257, HG00315, HG02691, HG03295, HG03018, NA20864, NA20863, HG02688, HG03478, NA20894, NA18563, HG01350, HG00272, NA19319, HG00122, NA19315, HG03754, HG02952, NA21130, HG02645, HG03234, HG00355, HG00311, HG00243, HG02981, HG02278, HG00139, HG03887, HG03619, NA19720, HG00335, HG02736, NA19024, NA19235, NA19172, HG01950, NA20412, HG00160, NA18990, NA18557, HG01058, HG02623, NA20127, HG00253, NA19027, HG00743, NA20535, NA12489, HG00268, HG00380, HG04146, HG00245, HG00360, NA20885, HG02678, HG01095, HG02449, HG03928, HG02253, NA19455, NA19043, NA19663, HG02887, HG00344, HG01498, HG01345, HG01607, HG01630, NA11919, NA19042, NA12829, HG03802, HG01613, NA19750, HG03631, HG02259, HG01101, HG01497, NA19099, NA19059, HG03971, NA19761, HG03672, NA19318, NA12778, HG03898, HG02896, HG02594, HG00126, HG03720, HG00258, HG02667, NA19149, HG03539, HG03920, HG01272, HG01939, HG02611, HG02232, NA20778, HG03304, HG01137, NA19083, NA20281, NA18610, NA12347, NA19328, NA19785, HG02095, HG02147, HG03313, HG03733, NA19716, NA19468, NA20289, NA19185, NA18609, HG00310, NA20786, HG02291, HG03077, NA20503, NA20502, NA19463, NA20585, HG04153, NA19065, NA11832, HG03690, NA19141, HG01356, NA19466, HG01348, NA19914, HG00187, HG03738, HG03057, NA19734, NA20813, HG03558, HG00367, HG02476, HG01465, HG03668, HG01686, HG02277, NA19393, NA19777, HG03139, HG01140, HG03464, HG02312, NA19005, NA12812, HG01070, HG02811, HG03796, HG03705, HG03499, HG02491, HG01997, HG01945, NA19649, NA19771, NA12287, HG00369, HG01510, HG03830, HG03868, NA12282, NA18874, HG03986, NA20819, NA20896, NA18560, HG01281, HG01308, NA19471, HG01176, NA12815, NA18520, HG00338, HG03750, NA19445, HG02882, HG00313, HG01136, HG00290, HG03844, HG03780, HG03160, HG02236, HG00190, HG01344, NA19327, HG01088, NA19236, HG00320, NA18637, HG02968, HG00708, HG01447, HG01094, HG03382, NA11894, HG02008, NA19031, HG01921, HG00117, NA19740, NA12827, HG03391, HG01403, HG01286, HG01990, HG01992, NA20296, HG01444, HG03833, NA12716, NA19834, HG03461, HG00357, HG01253, NA19037, HG01977, HG01623, HG01494, NA19439, NA20504, NA19310, NA19786, NA19467, NA18591, NA20516, NA07037, HG01862, NA20887, NA19475, NA19323, HG00111, HG03039, HG02970, HG00329, NA12749, HG03049, HG02053, HG01783, HG01055, HG03615, HG02679, HG01781, NA20528, HG01105, NA20886, HG01377, NA07056, HG02425, NA20763, NA18511, HG01578, NA12776, HG01976
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606958
Frequency
Sample Size2504
Observed Gain0
Observed Loss274
Observed Complex0
Frequencyn/a


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