A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5239697



Internal ID8331432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:163155627..163157079hg38UCSC Ensembl
Outerchr4:164076779..164078231hg19UCSC Ensembl
Outerchr4:164296229..164297681hg18UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg381453
hg191453
hg181453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2469391
Supporting Variants
SamplesNA18507
Known GenesNAF1
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)essv5239697
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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