A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759295



Internal ID18733541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172437777..172439738hg38UCSC Ensembl
Outerchr2:172437761..172439748hg38UCSC Ensembl
Innerchr2:173302505..173304466hg19UCSC Ensembl
Outerchr2:173302489..173304476hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381988
hg191988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560548
Supporting Variants
Samples
Known GenesITGA6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759295
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