A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548868



Internal ID18749944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21622491..21622800hg38UCSC Ensembl
Outerchr12:21622480..21622822hg38UCSC Ensembl
Innerchr12:21775425..21775734hg19UCSC Ensembl
Outerchr12:21775414..21775756hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747615
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548868
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