A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765818



Internal ID18393378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177396422..177396587hg38UCSC Ensembl
Outerchr5:177396368..177396631hg38UCSC Ensembl
Innerchr5:176823423..176823588hg19UCSC Ensembl
Outerchr5:176823369..176823632hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3567071
Supporting Variants
Samples
Known GenesSLC34A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765818
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