A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599313



Internal ID6639578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197561588..197726246hg38UCSC Ensembl
Innerchr3:197561738..197726096hg38UCSC Ensembl
Outerchr3:197561438..197726396hg38UCSC Ensembl
chr3:197288459..197453117hg19UCSC Ensembl
Innerchr3:197288609..197452967hg19UCSC Ensembl
Outerchr3:197288309..197453267hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38164659
hg19164659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11310311, essv11310312, essv11310313
SamplesHG02407, NA18510, HG03061
Known GenesBDH1, KIAA0226, LOC220729, MIR922
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599313
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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