A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588363



Internal ID6975779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192904459..192926936hg38UCSC Ensembl
Innerchr1:192904459..192926936hg38UCSC Ensembl
Outerchr1:192903959..192927436hg38UCSC Ensembl
chr1:192873589..192896066hg19UCSC Ensembl
Innerchr1:192873589..192896066hg19UCSC Ensembl
Outerchr1:192873089..192896566hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3822478
hg1922478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10239911
SamplesHG00304
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588363
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