A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13054215



Internal ID6470438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:643902..801246hg38UCSC Ensembl
chr8:593902..751246hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38157345
hg19157345
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615792
Supporting Variants
SamplesNA20520
Known GenesERICH1, ERICH1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13054215
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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