A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6896191



Internal ID10290054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241566681..241567894hg38UCSC Ensembl
Outerchr2:242506096..242507309hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381214
hg191214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722009
Supporting Variants
SamplesSSM099
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)essv6896191
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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