A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562532



Internal ID18763608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130047040..130087059hg38UCSC Ensembl
Outerchr3:130039415..130097923hg38UCSC Ensembl
Innerchr3:129765883..129805902hg19UCSC Ensembl
Outerchr3:129758258..129816766hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3858509
hg1958509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761279
Samples
Known GenesALG1L2, FAM86HP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562532
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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