A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14814718



Internal ID5195376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80424578..80428448hg38UCSC Ensembl
Innerchr13:80424578..80428448hg38UCSC Ensembl
Outerchr13:80424345..80428689hg38UCSC Ensembl
chr13:80998713..81002583hg19UCSC Ensembl
Innerchr13:80998713..81002583hg19UCSC Ensembl
Outerchr13:80998480..81002824hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg383871
hg193871
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632835
Supporting Variants
SamplesNA18612
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14814718
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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