A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14801761



Internal ID3455052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77982311..77985965hg38UCSC Ensembl
Innerchr13:77982311..77985965hg38UCSC Ensembl
Outerchr13:77982080..77986222hg38UCSC Ensembl
chr13:78556446..78560100hg19UCSC Ensembl
Innerchr13:78556446..78560100hg19UCSC Ensembl
Outerchr13:78556215..78560357hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383655
hg193655
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632788
Supporting Variants
SamplesHG03079
Known GenesLINC01069
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14801761
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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