A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2549113



Internal ID8612671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:116557718..116559065hg38UCSC Ensembl
Outerchr5:115893414..115894761hg19UCSC Ensembl
Outerchr5:115921313..115922660hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381348
hg191348
hg181348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5185911
SamplesNA18507
Known GenesSEMA6A
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)esv2549113
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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