A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2595574



Internal ID8659132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:20546999..20550466hg38UCSC Ensembl
Outerchr11:20568545..20572012hg19UCSC Ensembl
Outerchr11:20525121..20528588hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg383468
hg193468
hg183468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5186157
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)esv2595574
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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