A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647461



Internal ID6687516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25323914..25521686hg38UCSC Ensembl
chr22:25719881..25917653hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38197773
hg19197773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16394953, essv16394943, essv16394922, essv16394933, essv16394930, essv16394957, essv16394937, essv16394939, essv16394920, essv16394925, essv16394918, essv16394911, essv16394944, essv16394955, essv16394913, essv16394938, essv16394962, essv16394926, essv16394935, essv16394929, essv16394927, essv16394961, essv16394942, essv16394921, essv16394958, essv16394941, essv16394950, essv16394915, essv16394946, essv16394928, essv16394940, essv16394931, essv16394936, essv16394916, essv16394906, essv16394934, essv16394917, essv16394907, essv16394910, essv16394949, essv16394959, essv16394919, essv16394908, essv16394951, essv16394952, essv16394954, essv16394948, essv16394923, essv16394909, essv16394932, essv16394945, essv16394905, essv16394912, essv16394914, essv16394960, essv16394956, essv16394947, essv16394924
SamplesHG02724, HG01459, HG04146, HG01790, NA18595, HG01675, HG02970, HG03693, HG00736, HG00160, HG02792, HG01079, HG03663, HG03124, NA19920, NA21130, HG03920, HG03680, HG02790, HG03951, HG03928, HG02420, NA19383, NA12843, HG00371, NA19107, HG01709, HG03717, HG02861, HG03539, HG02028, NA19075, HG02521, NA11995, NA19681, HG02595, HG00867, NA19360, NA12716, HG03518, HG02771, NA20797, HG01447, HG02072, HG03118, HG03115, NA18909, HG04022, NA19764, NA19770, HG02589, HG03343, HG04177, NA20359, HG02682, HG01710, NA07000, HG02253
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647461
Frequency
Sample Size2504
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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