A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2587253



Internal ID8650811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158701082..158701846hg38UCSC Ensembl
Outerchr6:159122114..159122878hg19UCSC Ensembl
Outerchr6:159042102..159042866hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38398
hg19398
hg18398
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5372521
SamplesNA18507
Known GenesSYTL3
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)esv2587253
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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