A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9745044



Internal ID18372604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52255921..52258147hg38UCSC Ensembl
Outerchr10:52255840..52258618hg38UCSC Ensembl
Innerchr10:54015681..54017907hg19UCSC Ensembl
Outerchr10:54015600..54018378hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382779
hg192779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3546297
Supporting Variants
Samples
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9745044
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