A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858956



Internal ID10256544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46621526..46621617hg38UCSC Ensembl
Outerchr22:47017423..47017514hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724437, esv2724436, esv2724438
Supporting Variants
SamplesSSM087
Known Genes
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)essv6858956
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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