A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2604737



Internal ID8321609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:159164685..159166439hg38UCSC Ensembl
Outerchr5:158591693..158593447hg19UCSC Ensembl
Outerchr5:158524271..158526025hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381755
hg191755
hg181755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5376132
SamplesNA18507
Known GenesRNF145
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)esv2604737
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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