A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5172115



Internal ID8263850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:114134936..114136496hg38UCSC Ensembl
Outerchr3:113853783..113855343hg19UCSC Ensembl
Outerchr3:115336473..115338033hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381561
hg191561
hg181561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2537070
Supporting Variants
SamplesNA18507
Known GenesDRD3
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)essv5172115
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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