A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721463



Internal ID9955759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216641722..216642203hg38UCSC Ensembl
Outerchr2:217506445..217506926hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733788
SamplesSSM049
Known GenesIGFBP2
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)esv2721463
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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