A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2517835



Internal ID8234707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131679621..131680478hg38UCSC Ensembl
Outerchr11:131549515..131550372hg19UCSC Ensembl
Outerchr11:131054725..131055582hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38454
hg19454
hg18454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5308601
SamplesNA18507
Known GenesNTM
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)esv2517835
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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