A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765557



Internal ID18739803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150366651..150366919hg38UCSC Ensembl
Outerchr5:150366602..150366992hg38UCSC Ensembl
Innerchr5:149746214..149746482hg19UCSC Ensembl
Outerchr5:149746165..149746555hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566810
Supporting Variants
Samples
Known GenesTCOF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765557
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