A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2530621



Internal ID8594179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:35364433..35365691hg38UCSC Ensembl
Outerchr8:35221951..35223209hg19UCSC Ensembl
Outerchr8:35341493..35342751hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381259
hg191259
hg181259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5292947
SamplesNA18507
Known GenesUNC5D
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)esv2530621
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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