A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2483147



Internal ID8200019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45224280..45224912hg38UCSC Ensembl
Outerchr21:46644195..46644827hg19UCSC Ensembl
Outerchr21:45468623..45469255hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38660
hg19660
hg18660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5218791
SamplesNA18507
Known GenesADARB1
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)esv2483147
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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