A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9751472



Internal ID18379032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:78928955..78940935hg38UCSC Ensembl
Outerchr15:78928018..78941559hg38UCSC Ensembl
Innerchr15:79221297..79233277hg19UCSC Ensembl
Outerchr15:79220360..79233901hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3813542
hg1913542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3552725
Supporting Variants
Samples
Known GenesCTSH
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9751472
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