A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5254575



Internal ID7999624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37913769..37914815hg38UCSC Ensembl
Outerchr20:36542171..36543217hg19UCSC Ensembl
Outerchr20:35975585..35976631hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2633566
Supporting Variants
SamplesNA18507
Known GenesVSTM2L
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)essv5254575
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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