A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5352666



Internal ID8444401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58690054..58695333hg38UCSC Ensembl
Outerchr11:58457527..58462806hg19UCSC Ensembl
Outerchr11:58214103..58219382hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg385280
hg195280
hg185280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2528872
Supporting Variants
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)essv5352666
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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