A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2435306



Internal ID8498864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110043208..110044330hg38UCSC Ensembl
Outerchr13:110695555..110696677hg19UCSC Ensembl
Outerchr13:109493556..109494678hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38171
hg19171
hg18171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5189960
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)esv2435306
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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