A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv186e201



Internal ID20125073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40247136..40248175hg38UCSC Ensembl
chr12:40640938..40641977hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745782, esv2745784
SamplesSSM046, SSM097, SSM050, SSM042, SSM058, SSM021, SSM061, SSM032, SSM072, SSM053, SSM055, SSM052
Known GenesLRRK2
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)dgv186e201
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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