A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2550700



Internal ID8267572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67499106..67499867hg38UCSC Ensembl
Outerchr11:67266577..67267338hg19UCSC Ensembl
Outerchr11:67023153..67023914hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38537
hg19537
hg18537
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5180792
SamplesNA18507
Known GenesPITPNM1
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)esv2550700
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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