A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11000943



Internal ID631665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46935334..46936820hg38UCSC Ensembl
Innerchr3:46935334..46936820hg38UCSC Ensembl
Outerchr3:46935155..46937002hg38UCSC Ensembl
chr3:46976824..46978310hg19UCSC Ensembl
Innerchr3:46976824..46978310hg19UCSC Ensembl
Outerchr3:46976645..46978492hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381487
hg191487
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596072
Supporting Variants
SamplesHG00276
Known GenesCCDC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11000943
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