A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5216336



Internal ID8308071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110701156..110702593hg38UCSC Ensembl
Outerchr9:113463436..113464873hg19UCSC Ensembl
Outerchr9:112503257..112504694hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381438
hg191438
hg181438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2614598
Supporting Variants
SamplesNA18507
Known GenesMUSK
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)essv5216336
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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