A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822411



Internal ID480240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:84054392..84125009hg38UCSC Ensembl
Innerchr13:84054892..84124509hg38UCSC Ensembl
Outerchr13:84053392..84126009hg38UCSC Ensembl
chr13:84628527..84699144hg19UCSC Ensembl
Innerchr13:84629027..84698644hg19UCSC Ensembl
Outerchr13:84627527..84700144hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3870618
hg1970618
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632939
Supporting Variants
SamplesHG00158
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822411
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