A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560411



Internal ID18761487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157862591..157862881hg38UCSC Ensembl
Outerchr2:157862523..157862922hg38UCSC Ensembl
Innerchr2:158719103..158719393hg19UCSC Ensembl
Outerchr2:158719035..158719434hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759158
Samples
Known GenesACVR1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560411
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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