A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13058524



Internal ID6809199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:904089..947480hg38UCSC Ensembl
chr8:854089..897480hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3843392
hg1943392
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615804
Supporting Variants
SamplesNA20894
Known GenesERICH1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13058524
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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