A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1235e201



Internal ID22760593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142678481..142678981hg38UCSC Ensembl
chr8:143759899..143760399hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2737921, esv2737920
SamplesSSM036, SSM039, SSM088, SSM041, SSM023, SSM021, SSM018, SSM069, SSM032, SSM031, SSM072, SSM007, SSM070, SSM004
Known GenesPSCA
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)dgv1235e201
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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