A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710593



Internal ID3848344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44704648..44710520hg38UCSC Ensembl
Innerchr13:44704652..44710516hg38UCSC Ensembl
Outerchr13:44704644..44710524hg38UCSC Ensembl
chr13:45278784..45284656hg19UCSC Ensembl
Innerchr13:45278788..45284652hg19UCSC Ensembl
Outerchr13:45278780..45284660hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg385873
hg195873
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631939
Supporting Variants
SamplesHG03479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710593
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