A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2606151



Internal ID8669709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:168000666..168000930hg38UCSC Ensembl
Outerchr3:167718454..167718718hg19UCSC Ensembl
Outerchr3:169201148..169201412hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38995
hg19995
hg18995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5265410
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2606151
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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