A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719923



Internal ID10303559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36593154..36594390hg38UCSC Ensembl
Outerchr2:36820297..36821533hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381237
hg191237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742374, essv6919329, essv6933629, essv6750818, essv6751176, essv6764365, essv6962016, essv6764363, essv6816924
SamplesSSM008, SSM027, SSM057, SSM021, SSM003, SSM078, SSM053, SSM063
Known GenesFEZ2
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)esv2719923
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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