A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13347868



Internal ID3349684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:137775641..137845064hg38UCSC Ensembl
chr8:138787884..138857307hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3869424
hg1969424
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618966
Supporting Variants
SamplesHG02408
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13347868
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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