A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6883394



Internal ID10280813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:231047249..231047714hg38UCSC Ensembl
Outerchr1:231182995..231183460hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724806, esv2724817
Supporting Variants
SamplesSSM095
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6883394
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer