A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2479047



Internal ID8195919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124959810..124961228hg38UCSC Ensembl
Outerchr11:124829706..124831124hg19UCSC Ensembl
Outerchr11:124334916..124336334hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381419
hg191419
hg181419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5343116
SamplesNA18507
Known GenesCCDC15
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)esv2479047
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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