A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634953



Internal ID7021753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75054238..75058816hg38UCSC Ensembl
Innerchr14:75054239..75058816hg38UCSC Ensembl
Outerchr14:75054238..75058817hg38UCSC Ensembl
chr14:75520941..75525519hg19UCSC Ensembl
Innerchr14:75520942..75525519hg19UCSC Ensembl
Outerchr14:75520941..75525520hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg384579
hg194579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15063934, essv15063943, essv15063966, essv15063898, essv15063967, essv15063964, essv15063918, essv15063965, essv15063861, essv15063923, essv15063915, essv15063880, essv15063932, essv15063907, essv15063871, essv15063894, essv15063877, essv15063970, essv15063866, essv15063951, essv15063893, essv15063935, essv15063941, essv15063969, essv15063950, essv15063922, essv15063860, essv15063939, essv15063855, essv15063905, essv15063872, essv15063921, essv15063909, essv15063926, essv15063879, essv15063919, essv15063953, essv15063928, essv15063885, essv15063878, essv15063957, essv15063864, essv15063937, essv15063962, essv15063884, essv15063904, essv15063863, essv15063881, essv15063955, essv15063977, essv15063870, essv15063882, essv15063875, essv15063887, essv15063876, essv15063973, essv15063948, essv15063978, essv15063900, essv15063938, essv15063971, essv15063930, essv15063891, essv15063920, essv15063958, essv15063924, essv15063952, essv15063949, essv15063868, essv15063917, essv15063933, essv15063865, essv15063867, essv15063889, essv15063910, essv15063903, essv15063913, essv15063890, essv15063931, essv15063883, essv15063857, essv15063976, essv15063886, essv15063856, essv15063874, essv15063936, essv15063892, essv15063899, essv15063963, essv15063873, essv15063862, essv15063906, essv15063968, essv15063908, essv15063901, essv15063888, essv15063954, essv15063927, essv15063959, essv15063859, essv15063946, essv15063914, essv15063974, essv15063961, essv15063956, essv15063916, essv15063960, essv15063912, essv15063902, essv15063940, essv15063929, essv15063897, essv15063944, essv15063925, essv15063972, essv15063896, essv15063947, essv15063854, essv15063858, essv15063975, essv15063869, essv15063942, essv15063895, essv15063945, essv15063911
SamplesHG03812, NA19701, NA19141, HG03800, HG03366, NA19222, HG03857, HG02610, HG03965, HG03731, HG03163, HG04222, NA19378, HG04202, HG03300, HG03589, HG04076, HG03280, NA20298, NA20864, HG03193, HG02589, NA18870, HG03950, HG03199, HG03572, HG03074, HG01873, HG01325, HG00109, HG02811, NA19678, NA20317, HG03913, NA18960, HG04182, HG03342, HG03978, HG01848, HG03762, NA20910, NA19404, NA19137, HG03195, HG03624, HG04238, HG03352, NA20412, HG04047, NA21129, HG03055, NA18954, NA18867, NA20318, NA19027, HG03169, HG02047, HG02402, HG03908, HG03132, HG02233, NA20787, HG04225, HG02582, HG03786, HG03291, HG02108, NA19982, HG02775, HG03575, NA18910, HG02508, HG03311, NA19654, HG03730, NA20903, HG03824, HG00844, NA21124, NA21141, HG04173, HG02121, NA19113, HG03354, HG04118, HG02568, HG01589, HG03940, HG02675, NA18953, NA19440, NA19321, NA19108, NA18559, HG03949, HG01915, HG03117, NA18865, NA19439, NA19360, HG03019, HG03703, NA19323, HG03442, HG03157, NA20868, HG03977, NA19468, HG03022, HG04209, HG02768, HG04098, HG01269, HG03872, HG03470, HG02774, HG03922, HG03072, HG04161, HG02284, HG01776, NA12776, NA21120, NA19431, HG03886
Known GenesACYP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634953
Frequency
Sample Size2504
Observed Gain0
Observed Loss125
Observed Complex0
Frequencyn/a


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