A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554156



Internal ID18755232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27587924..27588855hg38UCSC Ensembl
Outerchr2:27587820..27588861hg38UCSC Ensembl
Innerchr2:27810791..27811722hg19UCSC Ensembl
Outerchr2:27810687..27811728hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752903
Samples
Known GenesZNF512
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554156
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