A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599278



Internal ID6639543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196229547..196249176hg38UCSC Ensembl
chr3:195956418..195976047hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3819630
hg1919630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11306774
SamplesHG03624
Known GenesPCYT1A, SLC51A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599278
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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