A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723140



Internal ID10306776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220052344..220052972hg38UCSC Ensembl
Outerchr1:220225686..220226314hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742283, essv6689412, essv6847292, essv6877794, essv6750745, essv6777095, essv6880555, essv6736114, essv6669227, essv6955013, essv6738978, essv6859391, essv6753647
SamplesSSM036, SSM093, SSM050, SSM088, SSM057, SSM058, SSM026, SSM094, SSM031, SSM067, SSM086, SSM053, SSM052
Known GenesRNU5F-1
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)esv2723140
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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