A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2471612



Internal ID8535170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:85536486..85539667hg38UCSC Ensembl
Outerchr11:85247530..85250711hg19UCSC Ensembl
Outerchr11:84925178..84928359hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg383182
hg193182
hg183182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5285922
SamplesNA18507
Known GenesDLG2
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)esv2471612
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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