A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5277470



Internal ID8022519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:5961597..5963058hg38UCSC Ensembl
Outerchr20:5942243..5943704hg19UCSC Ensembl
Outerchr20:5890243..5891704hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg381462
hg191462
hg181462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2453476
Supporting Variants
SamplesNA18507
Known GenesMCM8
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)essv5277470
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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