A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720410



Internal ID9954706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:96138371..96138932hg38UCSC Ensembl
Outerchr2:96804110..96804671hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750869
SamplesSSM057
Known GenesASTL
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)esv2720410
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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