A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593418



Internal ID6980742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175236621..175240335hg38UCSC Ensembl
Innerchr2:175236621..175240335hg38UCSC Ensembl
Outerchr2:175236361..175240548hg38UCSC Ensembl
chr2:176101349..176105063hg19UCSC Ensembl
Innerchr2:176101349..176105063hg19UCSC Ensembl
Outerchr2:176101089..176105276hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383715
hg193715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10764895, essv10764879, essv10764906, essv10764884, essv10764890, essv10764877, essv10764893, essv10764899, essv10764907, essv10764898, essv10764891, essv10764887, essv10764905, essv10764885, essv10764903, essv10764876, essv10764883, essv10764875, essv10764904, essv10764897, essv10764892, essv10764900, essv10764889, essv10764878, essv10764902, essv10764881, essv10764873, essv10764888, essv10764886, essv10764901, essv10764894, essv10764896, essv10764880, essv10764882, essv10764874
SamplesNA20874, NA18592, HG04158, HG02419, HG04002, HG02691, NA20864, HG03667, HG03792, HG02023, NA19067, HG00693, HG04022, HG03851, HG04214, NA21107, HG04238, NA18973, NA21105, HG03884, NA21122, HG00443, HG03787, HG02075, HG03711, NA18948, NA20856, NA19375, HG03833, NA19440, HG02682, HG04099, NA21090, HG03716, NA18620
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593418
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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