A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560454



Internal ID18414844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:162809916..162810200hg38UCSC Ensembl
Outerchr2:162809854..162810251hg38UCSC Ensembl
Innerchr2:163666426..163666710hg19UCSC Ensembl
Outerchr2:163666364..163666761hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759201
Samples
Known GenesKCNH7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560454
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