A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2459856



Internal ID8523414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:10269986..10272432hg38UCSC Ensembl
Outerchr11:10291533..10293979hg19UCSC Ensembl
Outerchr11:10248109..10250555hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382447
hg192447
hg182447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5287616
SamplesNA18507
Known GenesSBF2
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)esv2459856
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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