A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv220e201



Internal ID20125107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132556325..132557069hg38UCSC Ensembl
chr12:133132911..133133655hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2747011, esv2747008
SamplesSSM046, SSM065, SSM042, SSM023, SSM028, SSM069, SSM026, SSM017, SSM032, SSM067, SSM066, SSM082, SSM020
Known GenesFBRSL1
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)dgv220e201
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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