A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599141



Internal ID6986189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192219371..192270994hg38UCSC Ensembl
Innerchr3:192219871..192270494hg38UCSC Ensembl
Outerchr3:192218371..192271994hg38UCSC Ensembl
chr3:191937160..191988783hg19UCSC Ensembl
Innerchr3:191937660..191988283hg19UCSC Ensembl
Outerchr3:191936160..191989783hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3851624
hg1951624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv966e214
Supporting Variantsessv11273235, essv11273233, essv11273234, essv11273232, essv11273231
SamplesHG00373, HG03755, HG03809, NA19010, HG03882
Known GenesFGF12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599141
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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