A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2477444



Internal ID8541002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15650642..15652315hg38UCSC Ensembl
Outerchr19:15761452..15763125hg19UCSC Ensembl
Outerchr19:15622452..15624125hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381674
hg191674
hg181674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5201586
SamplesNA18507
Known GenesCYP4F3
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)esv2477444
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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