A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553800



Internal ID18408190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24034290..24035635hg38UCSC Ensembl
Outerchr2:24034126..24035660hg38UCSC Ensembl
Innerchr2:24257160..24258505hg19UCSC Ensembl
Outerchr2:24256996..24258530hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381535
hg191535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752547
Samples
Known GenesC2orf44
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553800
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