A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13357204



Internal ID6690306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140279389..140280624hg38UCSC Ensembl
Innerchr8:140279405..140280609hg38UCSC Ensembl
Outerchr8:140279374..140280640hg38UCSC Ensembl
chr8:141289488..141290723hg19UCSC Ensembl
Innerchr8:141289504..141290708hg19UCSC Ensembl
Outerchr8:141289473..141290739hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619029
Supporting Variants
SamplesNA20819
Known GenesTRAPPC9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13357204
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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