A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5254550



Internal ID8346285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43642482..43646586hg38UCSC Ensembl
Outerchr20:42271122..42275226hg19UCSC Ensembl
Outerchr20:41704536..41708640hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg384105
hg194105
hg184105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2470167
Supporting Variants
SamplesNA18507
Known GenesIFT52
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)essv5254550
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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