A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv182e201



Internal ID20125069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32253820..32253910hg38UCSC Ensembl
chr12:32406754..32406844hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745735, esv2745737
SamplesSSM087, SSM026
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)dgv182e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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