A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2469731



Internal ID8186603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:59644678..59645740hg38UCSC Ensembl
Outerchr11:59412151..59413213hg19UCSC Ensembl
Outerchr11:59168727..59169789hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38229
hg19229
hg18229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5168756
SamplesNA18507
Known GenesPATL1
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)esv2469731
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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