A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720125



Internal ID10303761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:60503764..60506488hg38UCSC Ensembl
Outerchr2:60730899..60733623hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382725
hg192725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787176
SamplesSSM009
Known GenesBCL11A
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)esv2720125
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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