A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14700760



Internal ID3342286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38954073..38955857hg38UCSC Ensembl
Innerchr13:38954085..38955846hg38UCSC Ensembl
Outerchr13:38954062..38955869hg38UCSC Ensembl
chr13:39528210..39529994hg19UCSC Ensembl
Innerchr13:39528222..39529983hg19UCSC Ensembl
Outerchr13:39528199..39530006hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381785
hg191785
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631828
Supporting Variants
SamplesHG02981
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14700760
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