A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621967



Internal ID7008833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134670482..134687339hg38UCSC Ensembl
chr9:137562328..137579185hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3816858
hg1916858
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13643796
SamplesNA20849
Known GenesCOL5A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621967
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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