A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2454485



Internal ID8518043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113424426..113425091hg38UCSC Ensembl
Outerchr13:114078741..114079406hg19UCSC Ensembl
Outerchr13:113126742..113127407hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38619
hg19619
hg18619
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5248580
SamplesNA18507
Known GenesADPRHL1
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)esv2454485
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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