A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2595833



Internal ID8659391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45568437..45569073hg38UCSC Ensembl
Outerchr22:45964317..45964953hg19UCSC Ensembl
Outerchr22:44342981..44343617hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38342
hg19342
hg18342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5284073
SamplesNA18507
Known GenesFBLN1
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)esv2595833
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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