A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5383471



Internal ID8475206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:67814404..67816014hg38UCSC Ensembl
Outerchr8:68726639..68728249hg19UCSC Ensembl
Outerchr8:68889193..68890803hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg381611
hg191611
hg181611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2462838
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)essv5383471
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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