A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716229



Internal ID9950517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111531699..111532687hg38UCSC Ensembl
Outerchr1:112074321..112075309hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38989
hg19989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736052, essv6764226, essv6749353, essv6669866, essv6933388, essv6847151, essv6972508, essv6747857, essv6950642, essv6853363, essv6940150
SamplesSSM008, SSM087, SSM050, SSM021, SSM029, SSM001, SSM086, SSM005, SSM025, SSM056, SSM063
Known GenesADORA3
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)esv2716229
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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