A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2496441



Internal ID8213313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42989425..42990782hg38UCSC Ensembl
Outerchr3:43030917..43032274hg19UCSC Ensembl
Outerchr3:43005921..43007278hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg381358
hg191358
hg181358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5216211
SamplesNA18507
Known GenesFAM198A
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)esv2496441
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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