A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561056



Internal ID18762132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222932665..222932950hg38UCSC Ensembl
Outerchr2:222932593..222933019hg38UCSC Ensembl
Innerchr2:223797383..223797668hg19UCSC Ensembl
Outerchr2:223797311..223797737hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759803
Samples
Known GenesACSL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561056
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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