A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560278



Internal ID18414668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143210264..143210962hg38UCSC Ensembl
Outerchr2:143210259..143210976hg38UCSC Ensembl
Innerchr2:143967833..143968531hg19UCSC Ensembl
Outerchr2:143967828..143968545hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759025
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560278
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer