A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710819



Internal ID4332682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45352364..45361056hg38UCSC Ensembl
Innerchr13:45352864..45360556hg38UCSC Ensembl
Outerchr13:45351364..45362056hg38UCSC Ensembl
chr13:45926499..45935191hg19UCSC Ensembl
Innerchr13:45926999..45934691hg19UCSC Ensembl
Outerchr13:45925499..45936191hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg388693
hg198693
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631951
Supporting Variants
SamplesHG03874
Known GenesTPT1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710819
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