A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714073



Internal ID10123167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44889839..44890233hg38UCSC Ensembl
Outerchr22:45285719..45286113hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724380, esv2724381
Supporting Variants
SamplesSSM042
Known GenesPHF21B
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)essv6714073
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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