A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2578603



Internal ID8642161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45054922..45055289hg38UCSC Ensembl
Outerchr21:46474837..46475204hg19UCSC Ensembl
Outerchr21:45299265..45299632hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38815
hg19815
hg18815
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5244135
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)esv2578603
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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