A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2511558



Internal ID1542100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:46014450..46016225hg38UCSC Ensembl
Outerchr11:46036001..46037776hg19UCSC Ensembl
Outerchr11:45992577..45994352hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381776
hg191776
hg181776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5383545
SamplesNA18507
Known GenesPHF21A
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)esv2511558
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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