A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5234108



Internal ID7979157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:112525734..112526672hg38UCSC Ensembl
Outerchr9:115288014..115288952hg19UCSC Ensembl
Outerchr9:114327835..114328773hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2559748
Supporting Variants
SamplesNA18507
Known GenesKIAA1958
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)essv5234108
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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