A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2447548



Internal ID8164420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79739145..79740591hg38UCSC Ensembl
Outerchr18:77499145..77500591hg19UCSC Ensembl
Outerchr18:75600133..75601579hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381447
hg191447
hg181447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5327223
SamplesNA18507
Known GenesCTDP1
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)esv2447548
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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