A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548822



Internal ID18749898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235889362..235890003hg38UCSC Ensembl
Outerchr1:235889335..235890017hg38UCSC Ensembl
Innerchr1:236052662..236053303hg19UCSC Ensembl
Outerchr1:236052635..236053317hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747569
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548822
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