A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13156524



Internal ID3158340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31672956..31686929hg38UCSC Ensembl
chr8:31530472..31544445hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3813974
hg1913974
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616802
Supporting Variants
SamplesHG00705
Known GenesNRG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13156524
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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