A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2485280



Internal ID3386381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32963502..32965564hg19UCSC Ensembl
Outerchr12:32854769..32856831hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg19594
hg18594
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5243182
SamplesNA18507
Known GenesPKP2
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2485280
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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