A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14814726



Internal ID1013035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80463025..80471822hg38UCSC Ensembl
Innerchr13:80463034..80471814hg38UCSC Ensembl
Outerchr13:80463017..80471831hg38UCSC Ensembl
chr13:81037160..81045957hg19UCSC Ensembl
Innerchr13:81037169..81045949hg19UCSC Ensembl
Outerchr13:81037152..81045966hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg388798
hg198798
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632840
Supporting Variants
SamplesHG00632
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14814726
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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