A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10309568



Internal ID6035806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226794867..226806367hg38UCSC Ensembl
Innerchr1:226794917..226806318hg38UCSC Ensembl
Outerchr1:226794818..226806417hg38UCSC Ensembl
chr1:226982568..226994068hg19UCSC Ensembl
Innerchr1:226982618..226994019hg19UCSC Ensembl
Outerchr1:226982519..226994118hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3811501
hg1911501
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589016
Supporting Variants
SamplesNA19439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10309568
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