A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585241



Internal ID6625560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12794746..12859339hg38UCSC Ensembl
Innerchr1:12795246..12858839hg38UCSC Ensembl
Outerchr1:12793746..12860339hg38UCSC Ensembl
chr1:12854895..12919194hg19UCSC Ensembl
Innerchr1:12855395..12918694hg19UCSC Ensembl
Outerchr1:12853895..12920194hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3864594
hg1964300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9857012, essv9857019, essv9856943, essv9857001, essv9856986, essv9857020, essv9856954, essv9857054, essv9857007, essv9857052, essv9857075, essv9857090, essv9857023, essv9856962, essv9857024, essv9856958, essv9857077, essv9857008, essv9856963, essv9857018, essv9857055, essv9856953, essv9857040, essv9856996, essv9856975, essv9856935, essv9857051, essv9857038, essv9856966, essv9857035, essv9857087, essv9857074, essv9857041, essv9857010, essv9857000, essv9856973, essv9856997, essv9856948, essv9856968, essv9857022, essv9857061, essv9856980, essv9857083, essv9857037, essv9856967, essv9857049, essv9857025, essv9856952, essv9857069, essv9857016, essv9857029, essv9857045, essv9856974, essv9856932, essv9856965, essv9856987, essv9857064, essv9856970, essv9856964, essv9857070, essv9856939, essv9856988, essv9857063, essv9856972, essv9857014, essv9857088, essv9857046, essv9856934, essv9857021, essv9856947, essv9856994, essv9857003, essv9856949, essv9857043, essv9857033, essv9857034, essv9857072, essv9856959, essv9857056, essv9857006, essv9857027, essv9856976, essv9856995, essv9856978, essv9856955, essv9856984, essv9857004, essv9857030, essv9856956, essv9856977, essv9857002, essv9857062, essv9856983, essv9857066, essv9857086, essv9856942, essv9857009, essv9857050, essv9856991, essv9857015, essv9857085, essv9856933, essv9856990, essv9857060, essv9856985, essv9857091, essv9857044, essv9857084, essv9856938, essv9857039, essv9856944, essv9857017, essv9857057, essv9856993, essv9857071, essv9856960, essv9856982, essv9857080, essv9857065, essv9856940, essv9857058, essv9857073, essv9856969, essv9856961, essv9857076, essv9857079, essv9856989, essv9857078, essv9856931, essv9856979, essv9856981, essv9857031, essv9857068, essv9856951, essv9857026, essv9857047, essv9856946, essv9857005, essv9857059, essv9857067, essv9856945, essv9856971, essv9857032, essv9857048, essv9857013, essv9856936, essv9857028, essv9856950, essv9857081, essv9856937, essv9856957, essv9857089, essv9856992, essv9857082, essv9856999, essv9856941, essv9856998, essv9857042, essv9857036, essv9857011, essv9857053
SamplesHG01878, HG01776, HG03755, HG01515, NA20887, NA12718, NA19436, HG00257, NA20890, HG03784, NA21110, HG03711, NA07056, NA11920, HG00596, NA12347, HG03693, HG01105, HG00632, HG01845, NA18603, HG01624, HG02450, NA19334, HG01615, NA19331, HG03894, NA21118, NA18969, HG01174, HG03616, HG01537, HG02146, HG01680, HG01954, HG03099, HG01920, NA18963, HG03951, HG01571, HG04094, NA18965, NA19084, HG03812, HG01950, NA12044, NA20853, HG01968, HG00188, HG00479, NA18559, HG00321, HG02008, HG02588, HG04219, NA20585, NA12763, HG03470, NA18624, HG04206, NA21111, NA19059, NA19076, HG01312, NA21088, HG02700, HG02394, NA12383, HG00140, HG02716, HG02221, HG02772, NA18990, HG00692, HG01183, NA18991, HG03884, HG03926, NA19083, HG01815, HG03241, HG03007, NA19066, NA18593, NA21144, HG01599, HG00584, HG03722, NA21102, NA21115, NA19000, HG03757, HG01948, HG03902, HG02490, HG02449, HG00360, HG03792, HG04161, HG02178, HG01806, HG01766, HG02461, HG00176, HG01281, NA18941, HG00672, HG02017, HG02031, NA20878, HG01676, HG02651, NA20828, HG01351, HG02087, HG00524, NA20542, NA21093, HG04162, HG04093, HG01383, HG03823, NA19789, HG02026, HG00120, HG02406, HG04235, HG00445, HG02301, NA18983, NA18567, HG01971, HG04019, NA12413, HG03238, HG02252, HG01802, NA18946, NA12546, HG02464, HG04177, HG00623, HG00693, NA18611, HG03016, HG01498, NA12874, HG00442, NA18981, HG02315, HG04006, NA19079, HG01377, HG03837, NA19087, HG03730, NA18555, HG01863, HG02425, HG03950, HG01354
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585241
Frequency
Sample Size2504
Observed Gain0
Observed Loss161
Observed Complex0
Frequencyn/a


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