A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2448711



Internal ID8512269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50751578..50753078hg38UCSC Ensembl
Outerchr17:48828939..48830439hg19UCSC Ensembl
Outerchr17:46183938..46185438hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381501
hg191501
hg181501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5242928
SamplesNA18507
Known GenesLUC7L3
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)esv2448711
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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