A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9739725



Internal ID18713971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154755920..154756183hg38UCSC Ensembl
Outerchr1:154755887..154756206hg38UCSC Ensembl
Innerchr1:154728396..154728659hg19UCSC Ensembl
Outerchr1:154728363..154728682hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3540978
Supporting Variants
Samples
Known GenesKCNN3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9739725
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