A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2648260



Internal ID8711819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:10299310..10300945hg38UCSC Ensembl
Outerchr17:10202627..10204262hg19UCSC Ensembl
Outerchr17:10143352..10144987hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381636
hg191636
hg181636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5172901
SamplesNA18507
Known GenesMYH13
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)esv2648260
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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