A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6742374



Internal ID10152255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36593190..36594390hg38UCSC Ensembl
Outerchr2:36820333..36821533hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719923
Supporting Variants
SamplesSSM053
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)essv6742374
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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