A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2622889



Internal ID8339761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86053481..86054005hg38UCSC Ensembl
Outerchr9:88668396..88668920hg19UCSC Ensembl
Outerchr9:87858216..87858740hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38646
hg19646
hg18646
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5258934
SamplesNA18507
Known GenesGOLM1
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)esv2622889
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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