A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14731205



Internal ID2636987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52362078..52377244hg38UCSC Ensembl
Innerchr13:52362128..52377194hg38UCSC Ensembl
Outerchr13:52362028..52377294hg38UCSC Ensembl
chr13:52936213..52951379hg19UCSC Ensembl
Innerchr13:52936263..52951329hg19UCSC Ensembl
Outerchr13:52936163..52951429hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3815167
hg1915167
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632091
Supporting Variants
SamplesHG02332
Known GenesTHSD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14731205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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