A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2590906



Internal ID8307778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106724631..106726009hg38UCSC Ensembl
Outerchr11:106595357..106596735hg19UCSC Ensembl
Outerchr11:106100567..106101945hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381379
hg191379
hg181379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5372752
SamplesNA18507
Known GenesGUCY1A2
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)esv2590906
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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