A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5326087



Internal ID8417822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:57375928..57376798hg38UCSC Ensembl
Outerchr11:57143401..57144271hg19UCSC Ensembl
Outerchr11:56899977..56900847hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38418
hg19418
hg18418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2585995
Supporting Variants
SamplesNA18507
Known GenesPRG3
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)essv5326087
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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