A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5321451



Internal ID8413186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:66829245..66830707hg38UCSC Ensembl
Outerchr5:66125073..66126535hg19UCSC Ensembl
Outerchr5:66160829..66162291hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381463
hg191463
hg181463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2580346
Supporting Variants
SamplesNA18507
Known GenesMAST4
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)essv5321451
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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