A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759760



Internal ID18734006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219367962..219368388hg38UCSC Ensembl
Outerchr2:219367886..219368465hg38UCSC Ensembl
Innerchr2:220232684..220233110hg19UCSC Ensembl
Outerchr2:220232608..220233187hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561013
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759760
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