A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14680803



Internal ID889174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30381557..30383905hg38UCSC Ensembl
Innerchr13:30381557..30383905hg38UCSC Ensembl
Outerchr13:30381295..30384240hg38UCSC Ensembl
chr13:30955694..30958042hg19UCSC Ensembl
Innerchr13:30955694..30958042hg19UCSC Ensembl
Outerchr13:30955432..30958377hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382349
hg192349
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631671
Supporting Variants
SamplesHG00478
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14680803
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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