A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720967



Internal ID9955263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:152348567..152349352hg38UCSC Ensembl
Outerchr2:153205081..153205866hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6745235, essv6847475, essv6906520, essv6962197, essv6785428, essv6836581, essv6886276
SamplesSSM027, SSM055, SSM083, SSM011, SSM069, SSM096, SSM014
Known GenesFMNL2
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)esv2720967
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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