A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9760502



Internal ID18388062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:38113459..38113584hg38UCSC Ensembl
Outerchr3:38113449..38113593hg38UCSC Ensembl
Innerchr3:38154950..38155075hg19UCSC Ensembl
Outerchr3:38154940..38155084hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561755
Supporting Variants
Samples
Known GenesDLEC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9760502
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