A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909869



Internal ID9670970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25255512..25504397hg38UCSC Ensembl
Outerchr22:25651479..25900364hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248886
hg19248886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724085, esv2724081
Supporting Variants
SamplesSSM014
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)essv6909869
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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