A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720477



Internal ID9954773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105055300..105055545hg38UCSC Ensembl
Outerchr2:105671758..105672003hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950918, essv6859592
SamplesSSM088, SSM025
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)esv2720477
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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