A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5240969



Internal ID8332704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77926321..77927866hg38UCSC Ensembl
Outerchr18:75638277..75639822hg19UCSC Ensembl
Outerchr18:73767265..73768810hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381546
hg191546
hg181546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2557885
Supporting Variants
SamplesNA18507
Known Genes
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)essv5240969
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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