A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2438585



Internal ID8155457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45498909..45499873hg38UCSC Ensembl
Outerchr21:46918823..46919787hg19UCSC Ensembl
Outerchr21:45743251..45744215hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38353
hg19353
hg18353
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5367646
SamplesNA18507
Known GenesCOL18A1
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)esv2438585
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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