A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742258



Internal ID18716504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:183613366..183618365hg38UCSC Ensembl
Outerchr1:183613352..183619365hg38UCSC Ensembl
Innerchr1:183582501..183587500hg19UCSC Ensembl
Outerchr1:183582487..183588500hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3543511
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742258
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