A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644440



Internal ID7031195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43044130..43105414hg38UCSC Ensembl
chr19:43548282..43609566hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3861285
hg1961285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv663e214
Supporting Variantsessv16058906, essv16058908, essv16058931, essv16058872, essv16058909, essv16058929, essv16058890, essv16058877, essv16058917, essv16058894, essv16058934, essv16058865, essv16058889, essv16058936, essv16058901, essv16058882, essv16058914, essv16058919, essv16058880, essv16058925, essv16058916, essv16058864, essv16058905, essv16058897, essv16058900, essv16058863, essv16058887, essv16058935, essv16058930, essv16058910, essv16058874, essv16058924, essv16058904, essv16058911, essv16058870, essv16058862, essv16058873, essv16058884, essv16058869, essv16058883, essv16058918, essv16058875, essv16058932, essv16058867, essv16058876, essv16058898, essv16058912, essv16058899, essv16058892, essv16058920, essv16058893, essv16058913, essv16058879, essv16058895, essv16058927, essv16058903, essv16058868, essv16058907, essv16058888, essv16058866, essv16058928, essv16058915, essv16058926, essv16058896, essv16058881, essv16058902, essv16058886, essv16058921, essv16058871, essv16058891, essv16058885, essv16058923, essv16058878, essv16058933, essv16058922
SamplesNA12842, NA19397, HG03163, NA20274, HG01815, HG03449, NA18999, HG02891, HG03455, NA12058, HG03792, NA20517, HG03069, NA12155, HG03074, HG01350, HG01325, HG02153, HG01366, NA20774, NA19916, HG03673, HG01354, NA18498, HG01110, HG03209, HG02143, HG02561, HG02315, NA20775, HG02573, HG01519, HG02471, HG01048, HG03583, HG02409, HG04075, HG02479, HG00176, HG03547, HG01882, HG02554, HG02144, HG00320, NA18630, HG03301, HG02429, NA18856, HG02649, NA19338, HG01936, NA19625, HG03064, NA19375, NA21113, NA18542, HG02667, NA19834, NA18543, NA19256, NA19147, NA20276, NA20792, HG02941, HG01620, HG01798, NA19376, NA18501, HG02052, HG01883, HG01082, HG02284, NA18522, HG02406, HG00255
Known GenesPSG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644440
Frequency
Sample Size2504
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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