A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2467344



Internal ID8530902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22813607..22814605hg38UCSC Ensembl
Outerchr7:22853226..22854224hg19UCSC Ensembl
Outerchr7:22819751..22820749hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5220882
SamplesNA18507
Known GenesTOMM7
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)esv2467344
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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