A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2622304



Internal ID8685862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47557039..47557631hg38UCSC Ensembl
Outerchr11:47578591..47579183hg19UCSC Ensembl
Outerchr11:47535167..47535759hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38573
hg19573
hg18573
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5163185
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)esv2622304
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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