A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720153



Internal ID9954449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65341882..65342660hg38UCSC Ensembl
Outerchr2:65569016..65569794hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38779
hg19779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972922, essv6801857
SamplesSSM073, SSM029
Known GenesSPRED2
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)esv2720153
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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