A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745782



Internal ID10326752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40247136..40248175hg38UCSC Ensembl
Outerchr12:40640938..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 Variantsdgv186e201
Supporting Variantsessv6760975, essv6744028, essv6741075, essv6891294, essv6746846, essv6677827, essv6713003, essv6936138, essv6800225, essv6728339, essv6713002, essv6737895, essv6755555
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)esv2745782
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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