A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585392



Internal ID6625711
Landmark
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
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3814873
hg1914873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9878938, essv9878924, essv9878919, essv9878907, essv9878913, essv9878899, essv9878930, essv9878908, essv9878922, essv9878940, essv9878905, essv9878889, essv9878928, essv9878943, essv9878931, essv9878898, essv9878914, essv9878934, essv9878935, essv9878932, essv9878918, essv9878921, essv9878906, essv9878893, essv9878929, essv9878933, essv9878911, essv9878894, essv9878917, essv9878909, essv9878896, essv9878915, essv9878890, essv9878925, essv9878939, essv9878942, essv9878936, essv9878895, essv9878897, essv9878910, essv9878904, essv9878891, essv9878920, essv9878901, essv9878886, essv9878912, essv9878887, essv9878903, essv9878927, essv9878941, essv9878926, essv9878916, essv9878902, essv9878888, essv9878937, essv9878892, essv9878923, essv9878900
SamplesHG01985, NA19222, NA19204, HG03175, NA19704, HG02798, HG02476, HG03297, HG03139, NA19374, NA19307, HG02549, HG03040, NA19404, NA19917, NA19137, HG02461, NA20340, NA19235, HG02427, NA19209, NA19445, HG03343, NA19403, HG01882, HG03428, HG02307, NA19461, HG02429, NA18879, HG03202, NA19042, NA19113, HG02666, NA19452, NA18523, NA18858, HG01956, HG01107, HG02772, HG02455, NA19834, HG02721, NA19144, HG03473, HG02814, HG03103, NA19117, HG02974, HG02768, NA19096, NA18876, NA19213, HG03162, NA18624, HG03303, HG02343, HG03439
Known GenesAKR7A3, AKR7L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585392
Frequency
Sample Size2504
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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