A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11261976



Internal ID871845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188115132..188131960hg38UCSC Ensembl
Innerchr3:188115132..188131960hg38UCSC Ensembl
Outerchr3:188114953..188132137hg38UCSC Ensembl
chr3:187832920..187849748hg19UCSC Ensembl
Innerchr3:187832920..187849748hg19UCSC Ensembl
Outerchr3:187832741..187849925hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3816829
hg1916829
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599021
Supporting Variants
SamplesHG00463
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11261976
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