A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720502



Internal ID9954798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108448027..108448299hg38UCSC Ensembl
Outerchr2:109064483..109064755hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv610e201
Supporting Variantsessv6898885, essv6955355, essv6679531, essv6722335
SamplesSSM100, SSM045, SSM026, 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)esv2720502
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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