A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2487059



Internal ID8550617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88103355..88104445hg38UCSC Ensembl
Outerchr5:87399172..87400262hg19UCSC Ensembl
Outerchr5:87434928..87436018hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38183
hg19183
hg18183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5246985
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)esv2487059
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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