A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13054141



Internal ID3055957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:246767..740082hg38UCSC Ensembl
chr8:196767..690082hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38493316
hg19493316
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615771
Supporting Variants
SamplesNA20502
Known GenesERICH1, ERICH1-AS1, FAM87A, FBXO25, TDRP, ZNF596
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13054141
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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