A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2632874



Internal ID8349746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4184857..4186525hg38UCSC Ensembl
Outerchr20:4165504..4167172hg19UCSC Ensembl
Outerchr20:4113504..4115172hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381669
hg191669
hg181669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5330855
SamplesNA18507
Known GenesSMOX
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)esv2632874
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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