A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5354042



Internal ID8445777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102932312..102932950hg38UCSC Ensembl
Outerchr7:102572759..102573397hg19UCSC Ensembl
Outerchr7:102359995..102360633hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38597
hg19597
hg18597
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2452928
Supporting Variants
SamplesNA18507
Known GenesFBXL13, LRRC17
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)essv5354042
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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