A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719495



Internal ID10303131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3285710..3285902hg38UCSC Ensembl
Outerchr2:3289481..3289673hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937945, essv6961959
SamplesSSM027, SSM022
Known GenesTSSC1
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)esv2719495
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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