A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560185



Internal ID18414575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134837901..134838701hg38UCSC Ensembl
Outerchr2:134837722..134838708hg38UCSC Ensembl
Innerchr2:135595471..135596271hg19UCSC Ensembl
Outerchr2:135595292..135596278hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38987
hg19987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758932
Samples
Known GenesACMSD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560185
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