A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5391763



Internal ID8136812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79684792..79684933hg38UCSC Ensembl
Outerchr18:77444792..77444933hg19UCSC Ensembl
Outerchr18:75545780..75545921hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381152
hg191152
hg181152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2531346
Supporting Variants
SamplesNA18507
Known GenesCTDP1
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)essv5391763
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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