A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14732341



Internal ID659042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52783774..52789180hg38UCSC Ensembl
Innerchr13:52783774..52789180hg38UCSC Ensembl
Outerchr13:52783483..52789437hg38UCSC Ensembl
chr13:53357909..53363315hg19UCSC Ensembl
Innerchr13:53357909..53363315hg19UCSC Ensembl
Outerchr13:53357618..53363572hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385407
hg195407
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632106
Supporting Variants
SamplesHG00306
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14732341
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