A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2454181



Internal ID3294116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40672402..40673543hg19UCSC Ensembl
Outerchr12:38958669..38959810hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg19174
hg18174
Variant TypeCNV Insertion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5376839
SamplesNA18507
Known GenesLRRK2
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2454181
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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