A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2531294



Internal ID8594852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:42540037..42541095hg38UCSC Ensembl
Outerchr7:42579636..42580694hg19UCSC Ensembl
Outerchr7:42546161..42547219hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5207290
SamplesNA18507
Known Genes
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)esv2531294
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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