A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598126



Internal ID6985262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148128682..148133927hg38UCSC Ensembl
chr3:147846469..147851714hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg385246
hg195246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11178111, essv11178113, essv11178112
SamplesHG00864, HG00476, HG02353
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598126
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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