A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597587



Internal ID6984726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120986680..121637759hg38UCSC Ensembl
chr3:120705527..121356606hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38651080
hg19651080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11122217
SamplesHG02079
Known GenesARGFX, FBXO40, HCLS1, POLQ, STXBP5L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597587
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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