A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585489



Internal ID6973012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23701835..23707263hg38UCSC Ensembl
Innerchr1:23701871..23707227hg38UCSC Ensembl
Outerchr1:23701799..23707299hg38UCSC Ensembl
chr1:24028325..24033753hg19UCSC Ensembl
Innerchr1:24028361..24033717hg19UCSC Ensembl
Outerchr1:24028289..24033789hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg385429
hg195429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9890050, essv9890054, essv9890055, essv9890051, essv9890049, essv9890057, essv9890048, essv9890056, essv9890053, essv9890052
SamplesHG04229, HG03772, HG03874, HG04146, HG04162, NA21098, NA20867, HG04093, HG03973, HG04161
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585489
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer