A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2554622



Internal ID8618180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:24327311..24334680hg38UCSC Ensembl
Outerchr11:24348857..24356226hg19UCSC Ensembl
Outerchr11:24305433..24312802hg18UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg387370
hg197370
hg187370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5377732
SamplesNA18507
Known Genes
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)esv2554622
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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