A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14801225



Internal ID4803041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77542581..77546435hg38UCSC Ensembl
Innerchr13:77542627..77546389hg38UCSC Ensembl
Outerchr13:77542535..77546481hg38UCSC Ensembl
chr13:78116716..78120570hg19UCSC Ensembl
Innerchr13:78116762..78120524hg19UCSC Ensembl
Outerchr13:78116670..78120616hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383855
hg193855
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632778
Supporting Variants
SamplesHG01067
Known GenesSCEL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14801225
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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