A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2487581



Internal ID8551139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36958814..36959419hg38UCSC Ensembl
Outerchr22:37354855..37355460hg19UCSC Ensembl
Outerchr22:35684801..35685406hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38507
hg19507
hg18507
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5297420
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)esv2487581
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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