A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5247702



Internal ID8339437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61995110..61996855hg38UCSC Ensembl
Outerchr20:60570166..60571911hg19UCSC Ensembl
Outerchr20:60003561..60005306hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381746
hg191746
hg181746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2550695
Supporting Variants
SamplesNA18507
Known GenesTAF4
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)essv5247702
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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