A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2469451



Internal ID3269755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33949639..33949965hg19UCSC Ensembl
Outerchr19:38641479..38641805hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg19824
hg18824
Variant TypeCNV Insertion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5251764
SamplesNA18507
Known GenesPEPD
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2469451
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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