A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2543418



Internal ID8260290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6151911..6153469hg38UCSC Ensembl
Outerchr19:6151922..6153480hg19UCSC Ensembl
Outerchr19:6102922..6104480hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381559
hg191559
hg181559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5378442
SamplesNA18507
Known GenesACSBG2
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)esv2543418
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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