A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv207e201



Internal ID22759565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128292483..128292855hg38UCSC Ensembl
chr12:128777028..128777400hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2746644, esv2746642
SamplesSSM024, SSM046, SSM031, SSM044, SSM080
Known GenesTMEM132C
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)dgv207e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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