A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589057



Internal ID6629348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228711090..228720005hg38UCSC Ensembl
Innerchr1:228711106..228719989hg38UCSC Ensembl
Outerchr1:228711074..228720021hg38UCSC Ensembl
chr1:228846837..228855752hg19UCSC Ensembl
Innerchr1:228846853..228855736hg19UCSC Ensembl
Outerchr1:228846821..228855768hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg388916
hg198916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10312752, essv10312753
SamplesHG01200, HG00099
Known GenesRHOU
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589057
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