A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14894124



Internal ID832605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108347550..108353618hg38UCSC Ensembl
Innerchr13:108347700..108353468hg38UCSC Ensembl
Outerchr13:108347400..108353768hg38UCSC Ensembl
chr13:108999898..109005966hg19UCSC Ensembl
Innerchr13:109000048..109005816hg19UCSC Ensembl
Outerchr13:108999748..109006116hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg386069
hg196069
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633505
Supporting Variants
SamplesHG00421
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14894124
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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