A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2585670



Internal ID8649228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149537473..149538447hg38UCSC Ensembl
Outerchr5:148917036..148918010hg19UCSC Ensembl
Outerchr5:148897229..148898203hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5216173
SamplesNA18507
Known GenesCSNK1A1
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)esv2585670
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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