A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5385066



Internal ID8130115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43549735..43554056hg38UCSC Ensembl
Outerchr21:44969616..44973937hg19UCSC Ensembl
Outerchr21:43794044..43798365hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384322
hg194322
hg184322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2627317
Supporting Variants
SamplesNA18507
Known GenesHSF2BP
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)essv5385066
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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