A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720504



Internal ID9954800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108448103..108448299hg38UCSC Ensembl
Outerchr2:109064559..109064755hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv610e201
Supporting Variantsessv6679531, essv6722335
SamplesSSM045, SSM033
Known Genes
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)esv2720504
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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