A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2459954



Internal ID8176826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26247412..26249713hg38UCSC Ensembl
Outerchr18:23827376..23829677hg19UCSC Ensembl
Outerchr18:22081374..22083675hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382302
hg192302
hg182302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5282213
SamplesNA18507
Known GenesTAF4B
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)esv2459954
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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