A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2568558



Internal ID8632116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98277452..98278440hg38UCSC Ensembl
Outerchr13:98929706..98930694hg19UCSC Ensembl
Outerchr13:97727707..97728695hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5373868
SamplesNA18507
Known GenesFARP1
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)esv2568558
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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