A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5285629



Internal ID8377364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:5158999..5160482hg38UCSC Ensembl
Outerchr3:5200684..5202167hg19UCSC Ensembl
Outerchr3:5175684..5177167hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg381484
hg191484
hg181484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2484755
Supporting Variants
SamplesNA18507
Known GenesARL8B
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)essv5285629
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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