A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599139



Internal ID6986187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192218451..192270327hg38UCSC Ensembl
chr3:191936240..191988116hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3851877
hg1951877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv966e214
Supporting Variantsessv11273229, essv11273228, essv11273227
SamplesHG03755, HG03809, HG03882
Known GenesFGF12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599139
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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