A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2463816



Internal ID8180688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:77474659..77475493hg38UCSC Ensembl
Outerchr9:80089575..80090409hg19UCSC Ensembl
Outerchr9:79279395..79280229hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38338
hg19338
hg18338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5338390
SamplesNA18507
Known GenesGNA14
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)esv2463816
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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