A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588562



Internal ID6975979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200683351..200686266hg38UCSC Ensembl
Innerchr1:200683382..200686236hg38UCSC Ensembl
Outerchr1:200683321..200686297hg38UCSC Ensembl
chr1:200652479..200655394hg19UCSC Ensembl
Innerchr1:200652510..200655364hg19UCSC Ensembl
Outerchr1:200652449..200655425hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382916
hg192916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10264965, essv10264964
SamplesHG01988, NA19711
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588562
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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