A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2593974



Internal ID8657534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:17122472..17124039hg38UCSC Ensembl
Outerchr20:17103117..17104684hg19UCSC Ensembl
Outerchr20:17051117..17052684hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg381568
hg191568
hg181568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5309057
SamplesNA18507
Known Genes
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)esv2593974
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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