A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793815



Internal ID10200700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241566681..241567887hg38UCSC Ensembl
Outerchr2:242506096..242507302hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722009
Supporting Variants
SamplesSSM071
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)essv6793815
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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