A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724163



Internal ID9958464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33673442..33674330hg38UCSC Ensembl
Outerchr22:34069428..34070316hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921510, essv6773245, essv6902344, essv6764082, essv6925497, essv6858918, essv6885846, essv6744811, essv6758938
SamplesSSM065, SSM053, SSM062, SSM012, SSM017, SSM095, SSM087, SSM018, SSM059
Known GenesLARGE
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)esv2724163
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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