A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2602066



Internal ID8318938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:35403406..35404218hg38UCSC Ensembl
Outerchr11:35424953..35425765hg19UCSC Ensembl
Outerchr11:35381529..35382341hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38414
hg19414
hg18414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5179660
SamplesNA18507
Known GenesSLC1A2
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)esv2602066
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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