A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724238



Internal ID10307874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38961925..38992064hg38UCSC Ensembl
Outerchr22:39357930..39388069hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3830140
hg1930140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6901474, essv6766434, essv6895684, essv6871587, essv6735891, essv6909882, essv6773251, essv6668807, essv6877548
SamplesSSM100, SSM065, SSM092, SSM090, SSM014, SSM098, SSM049, SSM030, SSM063
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
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)esv2724238
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