A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5283429



Internal ID8028478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88954056..88956189hg38UCSC Ensembl
Outerchr16:89020464..89022597hg19UCSC Ensembl
Outerchr16:87547965..87550098hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382134
hg192134
hg182134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2458116
Supporting Variants
SamplesNA18507
Known GenesCBFA2T3
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)essv5283429
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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