A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1253e201



Internal ID20126140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:21190219..21214473hg38UCSC Ensembl
chr9:21190218..21214472hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3824255
hg1924255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2738278, esv2738276
SamplesSSM100, SSM083, SSM075, SSM045, SSM013, SSM084, SSM096, SSM031, SSM085, SSM072, SSM082, SSM016, SSM005, SSM010, SSM070, SSM004, SSM098
Known GenesIFNA10, IFNA7
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)dgv1253e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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