A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5226934



Internal ID7971983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43696132..43697099hg38UCSC Ensembl
Outerchr20:42324772..42325739hg19UCSC Ensembl
Outerchr20:41758186..41759153hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38343
hg19343
hg18343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2606313
Supporting Variants
SamplesNA18507
Known GenesMYBL2
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)essv5226934
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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