A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5220416



Internal ID8312151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128452458..128460016hg38UCSC Ensembl
Outerchr8:129464704..129472262hg19UCSC Ensembl
Outerchr8:129533886..129541444hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg387559
hg197559
hg187559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2635480
Supporting Variants
SamplesNA18507
Known Genes
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)essv5220416
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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