A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1212e201



Internal ID22760570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74591164..74591960hg38UCSC Ensembl
chr8:75503399..75504195hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2737176, esv2737178
SamplesSSM050, SSM040, SSM055, SSM052, SSM049
Known Genes
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)dgv1212e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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