A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710302



Internal ID6477745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44243648..44245548hg38UCSC Ensembl
Innerchr13:44243669..44245528hg38UCSC Ensembl
Outerchr13:44243628..44245569hg38UCSC Ensembl
chr13:44817784..44819684hg19UCSC Ensembl
Innerchr13:44817805..44819664hg19UCSC Ensembl
Outerchr13:44817764..44819705hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631932
Supporting Variants
SamplesNA20522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710302
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