A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587097



Internal ID6974524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:106539172..106539712hg38UCSC Ensembl
Innerchr1:106539172..106539712hg38UCSC Ensembl
Outerchr1:106538866..106540032hg38UCSC Ensembl
chr1:107081794..107082334hg19UCSC Ensembl
Innerchr1:107081794..107082334hg19UCSC Ensembl
Outerchr1:107081488..107082654hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10050057, essv10050059, essv10050045, essv10050048, essv10050079, essv10050071, essv10050070, essv10050050, essv10050086, essv10050038, essv10050063, essv10050044, essv10050039, essv10050049, essv10050084, essv10050037, essv10050042, essv10050061, essv10050062, essv10050036, essv10050075, essv10050087, essv10050043, essv10050066, essv10050080, essv10050047, essv10050085, essv10050064, essv10050074, essv10050073, essv10050040, essv10050072, essv10050081, essv10050041, essv10050051, essv10050068, essv10050067, essv10050053, essv10050089, essv10050083, essv10050055, essv10050082, essv10050077, essv10050058, essv10050065, essv10050088, essv10050056, essv10050060, essv10050078, essv10050052, essv10050069, essv10050054, essv10050046, essv10050076
SamplesHG03514, HG02339, NA19028, NA18508, HG03300, NA20294, NA18878, NA20346, HG03139, HG03069, HG03572, HG03385, HG03135, HG02325, NA18923, NA18916, NA19457, NA20287, HG03209, NA19041, HG02224, HG03225, HG01879, HG01088, HG02554, HG02322, HG03575, NA20126, HG01049, HG02283, HG01497, NA18523, NA19095, NA18858, HG02484, NA20296, NA19017, HG03461, HG02546, HG02308, HG03127, NA19324, HG02464, HG02317, HG03419, HG03103, NA19328, NA18501, HG02971, HG01912, NA19223, NA19185, HG03077, HG02052
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587097
Frequency
Sample Size2504
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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