A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2469420



Internal ID8532978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57331270..57333316hg38UCSC Ensembl
Outerchr16:57365182..57367228hg19UCSC Ensembl
Outerchr16:55922683..55924729hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg382047
hg192047
hg182047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5341654
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)esv2469420
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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