A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14875969



Internal ID4877785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100754199..100765002hg38UCSC Ensembl
Innerchr13:100754199..100765002hg38UCSC Ensembl
Outerchr13:100754097..100765087hg38UCSC Ensembl
chr13:101406453..101417256hg19UCSC Ensembl
Innerchr13:101406453..101417256hg19UCSC Ensembl
Outerchr13:101406351..101417341hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3810804
hg1910804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633350
Supporting Variants
SamplesHG03063
Known GenesNALCN-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14875969
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