A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2550380



Internal ID1580920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120267024..120268070hg38UCSC Ensembl
Outerchr11:120137733..120138779hg19UCSC Ensembl
Outerchr11:119642943..119643989hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38338
hg19338
hg18338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5287004
SamplesNA18507
Known GenesPOU2F3
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)esv2550380
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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