A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10989213



Internal ID991029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40539689..40542632hg38UCSC Ensembl
Innerchr3:40539722..40542600hg38UCSC Ensembl
Outerchr3:40539657..40542665hg38UCSC Ensembl
chr3:40581180..40584123hg19UCSC Ensembl
Innerchr3:40581213..40584091hg19UCSC Ensembl
Outerchr3:40581148..40584156hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382944
hg192944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595951
Supporting Variants
SamplesHG03814
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10989213
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