A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3585392

Internal ID6625711
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19272870..19287742hg38UCSC Ensembl
Innerchr1:19272870..19287742hg38UCSC Ensembl
Outerchr1:19272370..19288242hg38UCSC Ensembl
chr1:19599364..19614236hg19UCSC Ensembl
Innerchr1:19599364..19614236hg19UCSC Ensembl
Outerchr1:19598864..19614736hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9878899, essv9878893, essv9878932, essv9878903, essv9878909, essv9878939, essv9878888, essv9878901, essv9878935, essv9878933, essv9878934, essv9878904, essv9878895, essv9878926, essv9878931, essv9878910, essv9878942, essv9878915, essv9878890, essv9878925, essv9878891, essv9878897, essv9878902, essv9878886, essv9878892, essv9878900, essv9878889, essv9878929, essv9878921, essv9878920, essv9878922, essv9878943, essv9878938, essv9878908, essv9878924, essv9878914, essv9878913, essv9878916, essv9878930, essv9878919, essv9878937, essv9878923, essv9878906, essv9878940, essv9878907, essv9878941, essv9878928, essv9878905, essv9878918, essv9878912, essv9878898, essv9878917, essv9878936, essv9878911, essv9878887, essv9878894, essv9878896, essv9878927
SamplesHG02666, NA19137, HG02427, NA19445, NA19222, NA19404, NA18523, HG01882, NA19209, HG02549, HG02974, HG01956, NA19461, NA19144, NA19834, HG03103, NA20340, NA19117, HG01107, HG02455, HG03162, NA18624, NA19917, HG03202, HG02772, HG03439, NA19096, NA18876, NA19042, NA19213, HG02814, HG02768, HG03040, NA19374, HG03473, HG02461, HG02429, HG02343, NA19704, NA18858, HG03428, HG02307, HG03297, NA19307, HG03175, NA19235, HG03303, NA19403, NA18879, NA19452, HG03343, HG03139, HG02476, HG02721, HG01985, NA19204, HG02798, NA19113
Known GenesAKR7A3, AKR7L
PlatformMultiple platforms
Pubmed ID21293372
Accession Number(s)esv3585392
Sample Size2504
Observed Gain0
Observed Loss58
Observed Complex0

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