A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2432211



Internal ID3296059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40751801..40753416hg19UCSC Ensembl
Outerchr12:39038068..39039683hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg19277
hg18277
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5162439
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)esv2432211
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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