A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1023e201



Internal ID20125910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149762403..149763390hg38UCSC Ensembl
chr6:150083539..150084526hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2732863, esv2732865
SamplesSSM059, SSM036, SSM050, SSM023, SSM061, SSM062, SSM003, SSM016, SSM053, SSM034, SSM099, SSM049, SSM012
Known GenesPCMT1
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)dgv1023e201
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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