A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2432184



Internal ID8149056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11874329..11874978hg38UCSC Ensembl
Outerchr18:11874328..11874977hg19UCSC Ensembl
Outerchr18:11864328..11864977hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38416
hg19416
hg18416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5234885
SamplesNA18507
Known GenesGNAL
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)esv2432184
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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