A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721503



Internal ID10305139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220823617..220823805hg38UCSC Ensembl
Outerchr2:221688337..221688525hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859748, essv6869067, essv6853940, essv6880752
SamplesSSM087, SSM088, SSM090, SSM094
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)esv2721503
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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