A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561297



Internal ID18762373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240498469..240498538hg38UCSC Ensembl
chr2:241437886..241437955hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760044
Samples
Known GenesANKMY1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561297
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