A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2546871



Internal ID8610429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6729668..6731302hg38UCSC Ensembl
Outerchr8:6587189..6588823hg19UCSC Ensembl
Outerchr8:6574597..6576231hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381635
hg191635
hg181635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5340766
SamplesNA18507
Known GenesAGPAT5
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)esv2546871
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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