A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720529



Internal ID10304165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112160690..112160751hg38UCSC Ensembl
Outerchr2:112918267..112918328hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955357
SamplesSSM026
Known GenesFBLN7
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)esv2720529
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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