A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640365



Internal ID6680452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31503171..31504270hg38UCSC Ensembl
Innerchr17:31503183..31504258hg38UCSC Ensembl
Outerchr17:31503159..31504282hg38UCSC Ensembl
chr17:29830189..29831288hg19UCSC Ensembl
Innerchr17:29830201..29831276hg19UCSC Ensembl
Outerchr17:29830177..29831300hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15658035, essv15658166, essv15658114, essv15658044, essv15658193, essv15658242, essv15658245, essv15658211, essv15658135, essv15658197, essv15658096, essv15658162, essv15658206, essv15657993, essv15658015, essv15658065, essv15658083, essv15658221, essv15658020, essv15658061, essv15658130, essv15658107, essv15658233, essv15658160, essv15658226, essv15658141, essv15658157, essv15658236, essv15658017, essv15658033, essv15658110, essv15658161, essv15658127, essv15658194, essv15657996, essv15658029, essv15658164, essv15658052, essv15658089, essv15658111, essv15658132, essv15657992, essv15658122, essv15658086, essv15658201, essv15658076, essv15658152, essv15658224, essv15658039, essv15658167, essv15658191, essv15658043, essv15658140, essv15658238, essv15658156, essv15658010, essv15658129, essv15658126, essv15658134, essv15658047, essv15658125, essv15658182, essv15658235, essv15658178, essv15658005, essv15658006, essv15658021, essv15658144, essv15658155, essv15658247, essv15657999, essv15658099, essv15658174, essv15658062, essv15658171, essv15658137, essv15657994, essv15658148, essv15658214, essv15658234, essv15658146, essv15658149, essv15658165, essv15658031, essv15658007, essv15658213, essv15658227, essv15658168, essv15658257, essv15657989, essv15658136, essv15658198, essv15658218, essv15657995, essv15658094, essv15658103, essv15658259, essv15658108, essv15658254, essv15657987, essv15658208, essv15657988, essv15658066, essv15658246, essv15658056, essv15658009, essv15658185, essv15658158, essv15658241, essv15658256, essv15658027, essv15658037, essv15658117, essv15658105, essv15658124, essv15658252, essv15658215, essv15658244, essv15658008, essv15658200, essv15658183, essv15658080, essv15658104, essv15658011, essv15658159, essv15658112, essv15658042, essv15657990, essv15658049, essv15658207, essv15658249, essv15658095, essv15658209, essv15658225, essv15658204, essv15658147, essv15658012, essv15658054, essv15658070, essv15658088, essv15658079, essv15658220, essv15658040, essv15657991, essv15658128, essv15658232, essv15658014, essv15658119, essv15658177, essv15658176, essv15658131, essv15658024, essv15658069, essv15658180, essv15658072, essv15658248, essv15658250, essv15658057, essv15658153, essv15658048, essv15658170, essv15658118, essv15658223, essv15658093, essv15658251, essv15658253, essv15658145, essv15658064, essv15658075, essv15658228, essv15658217, essv15658109, essv15658030, essv15658181, essv15658243, essv15658025, essv15658210, essv15658237, essv15658036, essv15658038, essv15658151, essv15658163, essv15658084, essv15658173, essv15658055, essv15658101, essv15658216, essv15658004, essv15658150, essv15658222, essv15657998, essv15658097, essv15658258, essv15658172, essv15658184, essv15658188, essv15658113, essv15658133, essv15658098, essv15658239, essv15658045, essv15658073, essv15658018, essv15658143, essv15658046, essv15658041, essv15658022, essv15658016, essv15658067, essv15658154, essv15658000, essv15658001, essv15658199, essv15658196, essv15658053, essv15658202, essv15658082, essv15658091, essv15658195, essv15658192, essv15658123, essv15658138, essv15658050, essv15658102, essv15658002, essv15658087, essv15658121, essv15658189, essv15658179, essv15658060, essv15658085, essv15658081, essv15658120, essv15658212, essv15658019, essv15658092, essv15658059, essv15658231, essv15658203, essv15658260, essv15658028, essv15658032, essv15658205, essv15658077, essv15658100, essv15658034, essv15658255, essv15658115, essv15658190, essv15657997, essv15658026, essv15658071, essv15658078, essv15658116, essv15658230, essv15658187, essv15658219, essv15658063, essv15658139, essv15658051, essv15658106, essv15658142, essv15658090, essv15658175, essv15658169, essv15658074, essv15658240, essv15658068, essv15658058, essv15658229, essv15658023, essv15658003, essv15658186, essv15658013
SamplesHG02808, HG02496, NA18870, HG03160, HG03120, HG03354, NA20351, HG03567, NA19031, NA19214, NA19712, NA18520, NA19026, NA19904, HG03382, HG01284, NA20278, HG03351, HG03521, HG03479, NA18871, HG03084, NA19114, HG02546, HG01342, HG03563, HG03437, HG02799, HG03410, NA19310, HG02549, HG02334, HG03055, HG02896, HG02759, HG03196, HG03086, NA18511, NA19455, HG02419, NA19435, HG03301, NA19319, HG03189, NA19430, HG03452, NA19317, HG03133, HG02952, HG03046, HG03265, HG03469, HG03212, NA18517, HG02722, HG02885, HG01915, HG02887, NA19338, NA19449, NA20342, HG02944, NA18865, NA19920, NA19184, HG03048, HG02977, NA18489, NA19461, HG03432, NA19144, HG00701, NA18507, NA19834, HG01188, NA19017, HG02322, HG03401, NA19320, HG02817, NA19257, HG02613, NA18488, NA19236, NA19355, HG03199, HG03378, HG02433, HG03394, HG02583, NA19472, NA19308, NA19467, HG01551, HG01682, NA19761, HG03159, HG02973, HG03049, NA20340, NA19043, HG03376, HG02870, HG02895, HG02585, HG03162, HG02420, NA19463, HG03088, HG02981, NA19383, HG03470, NA18508, NA19984, HG03193, HG03451, HG03484, HG02009, HG02716, HG02554, NA19471, NA19020, HG02577, HG02968, HG03578, HG02772, HG02703, HG03559, NA18856, NA19397, HG02643, HG03241, NA18876, NA19351, NA19440, NA19908, HG03052, HG03445, HG03565, NA18916, HG03027, NA19457, NA19190, HG03063, NA19213, HG01242, HG03225, NA19360, NA19377, HG03085, NA19395, HG02442, NA19172, NA19189, HG03195, HG02054, NA20291, HG03391, NA19374, NA19703, HG03209, NA19393, NA20126, HG01989, NA20348, NA19206, HG02461, HG03511, HG03547, NA20334, HG02804, NA18502, HG03472, HG02439, NA19901, HG02558, HG03514, HG02938, NA19175, NA19347, HG02771, NA18878, NA19909, HG03069, HG03073, NA19720, HG03433, HG02545, HG03297, NA19711, HG02614, HG03118, NA20355, HG03115, HG01880, HG03175, HG02570, HG03385, HG03028, HG03108, HG02484, HG03446, NA19376, HG03303, HG01393, NA18907, NA18909, HG02635, HG02923, NA19391, NA19723, HG03499, NA19201, HG01345, HG02238, HG03061, NA19741, HG03367, HG03556, NA20274, NA20298, HG02628, NA19434, HG02481, HG03105, NA19475, HG03476, NA18864, HG02465, NA19225, NA19327, HG02702, HG02891, HG03074, HG01886, HG03259, HG02464, NA18499, HG03077, NA19198, NA19916, HG02721, NA19315, HG03060, NA19130, HG02642, NA19171, NA19346, HG03372, NA19204, HG03117, NA19350, HG02315, HG02620, HG01479, HG02051, HG02505, NA19454, HG02332, NA19385, HG02855, HG02820, NA19439, HG03082, HG02715, HG03163, HG03370, HG02890, NA19913, HG02427, NA19625, NA18861, HG02108, NA19321
Known GenesRAB11FIP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640365
Frequency
Sample Size2504
Observed Gain0
Observed Loss274
Observed Complex0
Frequencyn/a


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