A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2476704



Internal ID8540262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:24322943..24325460hg38UCSC Ensembl
Outerchr18:21902907..21905424hg19UCSC Ensembl
Outerchr18:20156905..20159422hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382518
hg192518
hg182518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5321384
SamplesNA18507
Known GenesOSBPL1A
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)esv2476704
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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