A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765423



Internal ID18739669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134513836..134513957hg38UCSC Ensembl
Outerchr5:134513812..134513968hg38UCSC Ensembl
Innerchr5:133849527..133849648hg19UCSC Ensembl
Outerchr5:133849503..133849659hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566676
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765423
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