A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5362869



Internal ID8107918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51169331..51170047hg38UCSC Ensembl
Outerchr10:52929091..52929807hg19UCSC Ensembl
Outerchr10:52599097..52599813hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38575
hg19575
hg18575
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2603311
Supporting Variants
SamplesNA18507
Known GenesPRKG1
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)essv5362869
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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