A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597151



Internal ID6637421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99516655..99690858hg38UCSC Ensembl
chr3:99235499..99409702hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38174204
hg19174204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11082707
SamplesHG01432
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597151
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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