A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5251364



Internal ID7996413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:21415430..21417142hg38UCSC Ensembl
Outerchr3:21456922..21458634hg19UCSC Ensembl
Outerchr3:21431926..21433638hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381713
hg191713
hg181713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2622490
Supporting Variants
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)essv5251364
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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