A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2511334



Internal ID8574894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:55569409..55570372hg38UCSC Ensembl
Outerchr5:54865237..54866200hg19UCSC Ensembl
Outerchr5:54900994..54901957hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5169557
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)esv2511334
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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