A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719665



Internal ID10303301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11112565..11113152hg38UCSC Ensembl
Outerchr2:11252691..11253278hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38588
hg19588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917719
SamplesSSM017
Known GenesFLJ33534
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)esv2719665
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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