A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv183e201



Internal ID20125070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32253826..32254011hg38UCSC Ensembl
chr12:32406760..32406945hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745739, esv2745736
SamplesSSM077, SSM011, SSM029, SSM087
Known GenesBICD1
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)dgv183e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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