A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720479



Internal ID9954775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105079208..105079367hg38UCSC Ensembl
Outerchr2:105695666..105695825hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968342, essv6972992
SamplesSSM028, SSM029
Known GenesMRPS9
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)esv2720479
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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