A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595941



Internal ID6983259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:39956667..39957393hg38UCSC Ensembl
Innerchr3:39956671..39957389hg38UCSC Ensembl
Outerchr3:39956663..39957397hg38UCSC Ensembl
chr3:39998158..39998884hg19UCSC Ensembl
Innerchr3:39998162..39998880hg19UCSC Ensembl
Outerchr3:39998154..39998888hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10987928, essv10987924, essv10987934, essv10987969, essv10987943, essv10987929, essv10987976, essv10987949, essv10987963, essv10987944, essv10987977, essv10987926, essv10987930, essv10987925, essv10987974, essv10987953, essv10987946, essv10987957, essv10987954, essv10987921, essv10987973, essv10987942, essv10987938, essv10987958, essv10987950, essv10987918, essv10987941, essv10987931, essv10987960, essv10987966, essv10987935, essv10987939, essv10987936, essv10987948, essv10987920, essv10987916, essv10987947, essv10987971, essv10987945, essv10987922, essv10987940, essv10987975, essv10987968, essv10987919, essv10987932, essv10987970, essv10987972, essv10987961, essv10987967, essv10987933, essv10987959, essv10987962, essv10987952, essv10987951, essv10987956, essv10987964, essv10987923, essv10987978, essv10987917, essv10987955, essv10987937, essv10987927, essv10987965
SamplesHG03514, NA18502, HG02481, HG03111, HG03241, NA19819, HG03193, NA19190, HG02769, NA19446, NA19171, NA19379, HG03385, HG03452, HG02952, HG01488, NA19307, HG03105, HG03040, HG02111, HG02703, HG02573, HG01892, HG02588, NA19026, NA19025, NA18908, HG02882, NA20755, NA19451, HG03048, HG02570, NA19247, NA19982, HG02887, HG02497, HG02757, HG01161, HG02283, NA18853, HG02979, HG02585, NA19160, HG02813, NA20821, NA19440, HG03240, NA19256, HG03539, NA19454, HG02814, NA19474, HG01254, HG02013, HG03538, NA19030, HG03445, HG02947, NA19316, HG01125, HG01509, NA19153, HG03166
Known GenesMYRIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595941
Frequency
Sample Size2504
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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