A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14800926



Internal ID5595970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76251348..76253152hg38UCSC Ensembl
Innerchr13:76251360..76253141hg38UCSC Ensembl
Outerchr13:76251337..76253164hg38UCSC Ensembl
chr13:76825484..76827288hg19UCSC Ensembl
Innerchr13:76825496..76827277hg19UCSC Ensembl
Outerchr13:76825473..76827300hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg381805
hg191805
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632767
Supporting Variants
SamplesNA19030
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14800926
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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