A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5196579



Internal ID7941628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150366216..150367862hg38UCSC Ensembl
Outerchr5:149745779..149747425hg19UCSC Ensembl
Outerchr5:149725972..149727618hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381647
hg191647
hg181647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2649922
Supporting Variants
SamplesNA18507
Known GenesTCOF1
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)essv5196579
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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