A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv215e201



Internal ID18983854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132303311..132305508hg38UCSC Ensembl
chr12:132879897..132882094hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382198
hg192198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2746947, esv2746949
SamplesSSM065, SSM027, SSM036, SSM084, SSM043, SSM071, SSM045, SSM096, SSM079, SSM068, SSM098, SSM081, SSM070
Known GenesGALNT9
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)dgv215e201
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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