A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2479359



Internal ID8542917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:42796409..42797248hg38UCSC Ensembl
Outerchr2:43023549..43024388hg19UCSC Ensembl
Outerchr2:42877053..42877892hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38345
hg19345
hg18345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5167919
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)esv2479359
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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