A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5221389



Internal ID7966438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42894167..42894965hg38UCSC Ensembl
Outerchr21:44314277..44315075hg19UCSC Ensembl
Outerchr21:43187346..43188144hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38393
hg19393
hg18393
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2652948
Supporting Variants
SamplesNA18507
Known GenesNDUFV3
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)essv5221389
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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