A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2438181



Internal ID8501739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35613692..35615048hg38UCSC Ensembl
Outerchr5:35613794..35615150hg19UCSC Ensembl
Outerchr5:35649551..35650907hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381357
hg191357
hg181357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5215250
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)esv2438181
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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