A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv321e201



Internal ID20125208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1190919..1191838hg38UCSC Ensembl
chr16:1240919..1241838hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38920
hg19920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750300, esv2750302
SamplesSSM072, SSM071, SSM009, SSM068, SSM044, SSM026, SSM076
Known GenesCACNA1H
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)dgv321e201
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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