A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5325404



Internal ID8070453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150061388..150062903hg38UCSC Ensembl
Outerchr5:149440951..149442466hg19UCSC Ensembl
Outerchr5:149421144..149422659hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381516
hg191516
hg181516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2504567
Supporting Variants
SamplesNA18507
Known GenesCSF1R
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)essv5325404
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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