A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539978



Internal ID18741054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116535595..116535860hg38UCSC Ensembl
Outerchr1:116535517..116535915hg38UCSC Ensembl
Innerchr1:117078217..117078482hg19UCSC Ensembl
Outerchr1:117078139..117078537hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738725
Samples
Known GenesCD58
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539978
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