A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628479



Internal ID7015303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8787570..8795078hg38UCSC Ensembl
chr12:8940166..8947674hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387509
hg197509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14359221, essv14359198, essv14359237, essv14359256, essv14359214, essv14359113, essv14359218, essv14359121, essv14359212, essv14359174, essv14359161, essv14359123, essv14359258, essv14359169, essv14359234, essv14359145, essv14359131, essv14359155, essv14359197, essv14359154, essv14359200, essv14359207, essv14359226, essv14359187, essv14359242, essv14359208, essv14359132, essv14359124, essv14359228, essv14359109, essv14359236, essv14359175, essv14359166, essv14359171, essv14359262, essv14359126, essv14359106, essv14359255, essv14359150, essv14359122, essv14359247, essv14359117, essv14359164, essv14359251, essv14359143, essv14359195, essv14359209, essv14359186, essv14359210, essv14359220, essv14359216, essv14359179, essv14359191, essv14359239, essv14359173, essv14359248, essv14359107, essv14359244, essv14359146, essv14359243, essv14359114, essv14359241, essv14359160, essv14359222, essv14359230, essv14359183, essv14359144, essv14359233, essv14359149, essv14359260, essv14359134, essv14359202, essv14359182, essv14359152, essv14359148, essv14359128, essv14359204, essv14359232, essv14359176, essv14359178, essv14359224, essv14359142, essv14359223, essv14359196, essv14359190, essv14359156, essv14359104, essv14359133, essv14359240, essv14359217, essv14359249, essv14359188, essv14359177, essv14359129, essv14359138, essv14359229, essv14359159, essv14359108, essv14359219, essv14359167, essv14359192, essv14359120, essv14359211, essv14359180, essv14359172, essv14359181, essv14359185, essv14359252, essv14359162, essv14359238, essv14359235, essv14359170, essv14359253, essv14359203, essv14359250, essv14359231, essv14359111, essv14359189, essv14359153, essv14359245, essv14359147, essv14359199, essv14359127, essv14359259, essv14359118, essv14359261, essv14359112, essv14359225, essv14359246, essv14359125, essv14359168, essv14359157, essv14359227, essv14359151, essv14359194, essv14359193, essv14359213, essv14359158, essv14359215, essv14359135, essv14359257, essv14359184, essv14359205, essv14359105, essv14359116, essv14359201, essv14359139, essv14359140, essv14359119, essv14359163, essv14359137, essv14359110, essv14359254, essv14359136, essv14359115, essv14359141, essv14359130, essv14359206, essv14359165
SamplesHG00189, HG03559, NA19141, HG01098, HG01438, HG03175, NA18881, HG00257, NA12045, HG02804, NA20805, HG03295, NA19684, HG00179, HG01518, HG03577, HG02589, HG02536, NA18526, NA19314, HG03680, NA20846, HG03095, HG01500, HG03436, HG00109, HG03099, NA20861, HG03490, HG01676, HG02325, NA20774, NA19723, NA19119, HG01766, HG02687, HG00238, HG03370, NA20769, NA07347, HG01528, HG00355, HG03224, HG01365, HG01393, NA19923, HG00148, NA18874, NA18868, HG01757, HG00262, NA19024, NA12815, NA18520, HG00637, NA18864, HG02715, HG00743, HG02737, NA19210, HG03061, HG00332, HG02697, NA19462, HG03990, NA19984, HG03547, NA19327, NA19455, NA19236, HG02450, HG03428, HG00598, NA12718, HG03159, HG01149, HG02976, HG03123, HG00324, HG03563, HG03472, HG01512, HG03824, HG00373, HG02577, HG00110, NA11840, NA18856, NA18912, HG01182, HG03625, NA18853, NA12827, HG02724, HG01705, HG02256, NA18523, NA19395, HG03774, HG00240, NA20534, HG01990, NA19436, NA19149, HG02501, NA20870, HG03689, NA12873, HG02651, NA19144, HG03850, HG02232, NA19835, NA20792, NA20778, HG01205, NA19679, NA21095, NA19310, HG01137, HG00319, HG01108, NA12874, HG04090, NA21094, HG03557, HG03419, NA06986, HG00269, HG01086, NA20906, HG00111, HG02971, HG01491, HG03097, HG03863, HG02938, HG02396, NA20510, NA20289, HG03410, HG00131, NA19726, NA11843, NA19711, NA19213, HG03401, HG01883, NA19661, NA19030, HG02947, NA18989, NA12890, NA21104, HG03129, HG02343, HG00362, NA19431, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628479
Frequency
Sample Size2504
Observed Gain0
Observed Loss159
Observed Complex0
Frequencyn/a


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