A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597608



Internal ID6637876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122388272..122393246hg38UCSC Ensembl
Innerchr3:122388272..122393246hg38UCSC Ensembl
Outerchr3:122388053..122393389hg38UCSC Ensembl
chr3:122107119..122112093hg19UCSC Ensembl
Innerchr3:122107119..122112093hg19UCSC Ensembl
Outerchr3:122106900..122112236hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg384975
hg194975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11123069
SamplesNA19431
Known GenesFAM162A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597608
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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