A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2502546



Internal ID8566104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:148542271..148543660hg38UCSC Ensembl
Outerchr4:149463423..149464812hg19UCSC Ensembl
Outerchr4:149682873..149684262hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg381390
hg191390
hg181390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5357733
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)esv2502546
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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