A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5333479



Internal ID8425214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39290952..39292698hg38UCSC Ensembl
Outerchr17:37447205..37448951hg19UCSC Ensembl
Outerchr17:34700731..34702477hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381747
hg191747
hg181747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2506125
Supporting Variants
SamplesNA18507
Known GenesFBXL20
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)essv5333479
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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