A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5309350



Internal ID8401085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29916013..29917049hg38UCSC Ensembl
Outerchr21:31288331..31289367hg19UCSC Ensembl
Outerchr21:30210202..30211238hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38227
hg19227
hg18227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2540796
Supporting Variants
SamplesNA18507
Known GenesGRIK1
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)essv5309350
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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