A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589197



Internal ID6972132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235526721..235533341hg38UCSC Ensembl
Innerchr1:235526721..235533341hg38UCSC Ensembl
Outerchr1:235526516..235533640hg38UCSC Ensembl
chr1:235690022..235696641hg19UCSC Ensembl
Innerchr1:235690022..235696641hg19UCSC Ensembl
Outerchr1:235689817..235696940hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg386621
hg196620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10332903, essv10332902
SamplesHG03385, HG03382
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589197
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