A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2628998



Internal ID8345870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43280322..43282078hg38UCSC Ensembl
Outerchr22:43676328..43678084hg19UCSC Ensembl
Outerchr22:42006272..42008028hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381757
hg191757
hg181757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5321661
SamplesNA18507
Known GenesSCUBE1
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)esv2628998
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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