A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5234809



Internal ID8326544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38913882..38914518hg38UCSC Ensembl
Outerchr21:40285806..40286442hg19UCSC Ensembl
Outerchr21:39207676..39208312hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38722
hg19722
hg18722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2596489
Supporting Variants
SamplesNA18507
Known Genes
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)essv5234809
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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