A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5301403



Internal ID8393138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:69347634..69353376hg38UCSC Ensembl
Outerchr17:67343775..67349517hg19UCSC Ensembl
Outerchr17:64855370..64861112hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg385743
hg195743
hg185743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2546518
Supporting Variants
SamplesNA18507
Known Genes
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)essv5301403
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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