A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2461249



Internal ID8524807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:98452230..98453675hg38UCSC Ensembl
Outerchr8:99464458..99465903hg19UCSC Ensembl
Outerchr8:99533634..99535079hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381446
hg191446
hg181446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5218966
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)esv2461249
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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