A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5386345



Internal ID8478080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:33455231..33457235hg38UCSC Ensembl
Outerchr20:32043037..32045041hg19UCSC Ensembl
Outerchr20:31506698..31508702hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382005
hg192005
hg182005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2468412
Supporting Variants
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)essv5386345
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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