A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748458



Internal ID18376018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243262069..243262336hg38UCSC Ensembl
Outerchr1:243262005..243262377hg38UCSC Ensembl
Innerchr1:243425371..243425638hg19UCSC Ensembl
Outerchr1:243425307..243425679hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549711
Supporting Variants
Samples
Known GenesSDCCAG8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748458
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