A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv308e201



Internal ID20125195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78791487..78792585hg38UCSC Ensembl
chr15:79083829..79084927hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2749914, esv2749915
SamplesSSM008, SSM065, SSM087, SSM038, SSM092, SSM021, SSM061, SSM029, SSM032, SSM007, SSM015, SSM053, SSM052
Known GenesADAMTS7
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)dgv308e201
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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