A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5263021



Internal ID8008070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127270375..127273352hg38UCSC Ensembl
Outerchr9:130032654..130035631hg19UCSC Ensembl
Outerchr9:129072475..129075452hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg382978
hg192978
hg182978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2492436
Supporting Variants
SamplesNA18507
Known GenesGARNL3
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)essv5263021
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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