A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13154928



Internal ID4988405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30138142..30146624hg38UCSC Ensembl
Innerchr8:30138159..30146607hg38UCSC Ensembl
Outerchr8:30138125..30146641hg38UCSC Ensembl
chr8:29995658..30004140hg19UCSC Ensembl
Innerchr8:29995675..30004123hg19UCSC Ensembl
Outerchr8:29995641..30004157hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg388483
hg198483
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616784
Supporting Variants
SamplesNA18489
Known GenesMBOAT4, MIR548O2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13154928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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