A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721202



Internal ID10304838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181009503..181010090hg38UCSC Ensembl
Outerchr2:181874230..181874817hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38588
hg19588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793740
SamplesSSM071
Known GenesUBE2E3
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)esv2721202
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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