A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv129e201



Internal ID20125016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1412032..1412216hg38UCSC Ensembl
chr11:1433262..1433446hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743924, esv2743922
SamplesSSM097, SSM077
Known GenesBRSK2
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)dgv129e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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