A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588919



Internal ID6976335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221323954..221325337hg38UCSC Ensembl
Innerchr1:221323976..221325316hg38UCSC Ensembl
Outerchr1:221323933..221325359hg38UCSC Ensembl
chr1:221497296..221498679hg19UCSC Ensembl
Innerchr1:221497318..221498658hg19UCSC Ensembl
Outerchr1:221497275..221498701hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381384
hg191384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10299727, essv10299722, essv10299731, essv10299734, essv10299726, essv10299725, essv10299736, essv10299721, essv10299733, essv10299729, essv10299732, essv10299735, essv10299730, essv10299728, essv10299723, essv10299724
SamplesNA21111, NA21128, HG03594, HG02728, NA21116, NA20866, HG02649, HG03740, HG03672, HG03940, HG03838, NA20902, HG04099, HG03973, NA20897, NA21101
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588919
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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