A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2562764



Internal ID8279636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37283642..37284202hg38UCSC Ensembl
Outerchr18:34863605..34864165hg19UCSC Ensembl
Outerchr18:33117603..33118163hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38672
hg19672
hg18672
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5371113
SamplesNA18507
Known GenesCELF4
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)esv2562764
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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