A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724203



Internal ID3274699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36872289..36872936hg38UCSC Ensembl
Outerchr22:37268331..37268978hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961186, essv6839784, essv6954488, essv6946273, essv6703655, essv6721812, essv6788930, essv6717973, essv6858927, essv6832397, essv6871584, essv6769358, essv6901470
SamplesSSM043, SSM090, SSM064, SSM025, SSM039, SSM083, SSM100, SSM069, SSM087, SSM023, SSM044, SSM026, SSM081
Known GenesNCF4
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)esv2724203
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