A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759313



Internal ID18386873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174225915..174226177hg38UCSC Ensembl
Outerchr2:174225863..174226237hg38UCSC Ensembl
Innerchr2:175090643..175090905hg19UCSC Ensembl
Outerchr2:175090591..175090965hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560566
Supporting Variants
Samples
Known GenesOLA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759313
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