A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587683



Internal ID6975105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158804856..158809541hg38UCSC Ensembl
Innerchr1:158804886..158809511hg38UCSC Ensembl
Outerchr1:158804826..158809571hg38UCSC Ensembl
chr1:158774646..158779331hg19UCSC Ensembl
Innerchr1:158774676..158779301hg19UCSC Ensembl
Outerchr1:158774616..158779361hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg384686
hg194686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10160881
SamplesHG02054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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