A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644597



Internal ID7031351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48697337..48707590hg38UCSC Ensembl
Innerchr19:48697337..48707590hg38UCSC Ensembl
Outerchr19:48697093..48707823hg38UCSC Ensembl
chr19:49200594..49210847hg19UCSC Ensembl
Innerchr19:49200594..49210847hg19UCSC Ensembl
Outerchr19:49200350..49211080hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810254
hg1910254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16072951, essv16072960, essv16072974, essv16072971, essv16072928, essv16072961, essv16072922, essv16072967, essv16072972, essv16072979, essv16072939, essv16072966, essv16072957, essv16072935, essv16072955, essv16072963, essv16072981, essv16072973, essv16072925, essv16072947, essv16072968, essv16072934, essv16072945, essv16072933, essv16072937, essv16072926, essv16072953, essv16072965, essv16072954, essv16072931, essv16072948, essv16072976, essv16072970, essv16072959, essv16072930, essv16072977, essv16072985, essv16072983, essv16072941, essv16072982, essv16072956, essv16072980, essv16072924, essv16072952, essv16072944, essv16072936, essv16072940, essv16072964, essv16072927, essv16072984, essv16072942, essv16072943, essv16072950, essv16072932, essv16072969, essv16072923, essv16072938, essv16072949, essv16072929, essv16072958, essv16072978, essv16072962, essv16072946, essv16072975
SamplesHG03857, HG03965, HG04229, HG03687, HG03607, HG03015, HG02727, HG03895, HG03667, HG03944, HG03950, HG03782, HG03837, HG04100, HG04038, HG03706, HG03943, HG03754, HG03722, HG03873, HG03604, HG03594, HG03887, HG04183, HG03888, HG03947, HG03744, HG03750, HG04075, HG03862, HG01867, HG03787, HG03007, HG03900, HG03919, HG02789, HG04054, HG03951, HG03858, HG03740, HG03643, HG04189, HG03745, HG03898, HG03743, HG02330, HG03848, HG04227, HG03692, NA21123, HG03488, HG03681, HG04141, HG04015, HG03849, HG03998, HG03684, HG04098, NA19661, HG04161, HG04061, HG03698, HG03686, HG03741
Known GenesFUT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644597
Frequency
Sample Size2504
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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