A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3552589



Internal ID18753665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11108504..11108836hg38UCSC Ensembl
Outerchr2:11108427..11108915hg38UCSC Ensembl
Innerchr2:11248630..11248962hg19UCSC Ensembl
Outerchr2:11248553..11249041hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751336
Samples
Known GenesFLJ33534
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3552589
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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