A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6961227



Internal ID9716761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:47069652..47069749hg38UCSC Ensembl
Outerchr22:47465548..47465645hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724468, esv2724467, esv2724469, esv2724466
Supporting Variants
SamplesSSM026
Known GenesTBC1D22A
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)essv6961227
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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