A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2496208



Internal ID8559766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:102697707..102699384hg38UCSC Ensembl
Outerchr5:102033411..102035088hg19UCSC Ensembl
Outerchr5:102061310..102062987hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg381678
hg191678
hg181678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5249351
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)esv2496208
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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