A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14735009



Internal ID3338398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:55078625..55085439hg38UCSC Ensembl
Innerchr13:55078625..55085439hg38UCSC Ensembl
Outerchr13:55078566..55085447hg38UCSC Ensembl
chr13:55652760..55659574hg19UCSC Ensembl
Innerchr13:55652760..55659574hg19UCSC Ensembl
Outerchr13:55652701..55659582hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg386815
hg196815
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632149
Supporting Variants
SamplesHG02979
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14735009
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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