A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954228



Internal ID9991964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241566684..241567905hg38UCSC Ensembl
Outerchr2:242506099..242507320hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381222
hg191222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722009
Supporting Variants
SamplesSSM004
Known GenesBOK
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)essv6954228
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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