A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719418



Internal ID10303054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2644606..2645343hg38UCSC Ensembl
Outerchr2:2648378..2649115hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38738
hg19738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759251, essv6896026, essv6693053, essv6917692, essv6699880, essv6810519, essv6921992, essv6859476, essv6961948, essv6868916, essv6968219, essv6844091, essv6929344, essv6832812, essv6879043, essv6781136, essv6764339, essv6955155, essv6750753, essv6847421
SamplesSSM008, SSM027, SSM039, SSM088, SSM028, SSM090, SSM018, SSM061, SSM026, SSM017, SSM086, SSM085, SSM068, SSM082, SSM020, SSM037, SSM076, SSM099, SSM063, SSM012
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)esv2719418
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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