A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5381146



Internal ID8472881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30795702..30799181hg38UCSC Ensembl
Outerchr19:31286609..31290088hg19UCSC Ensembl
Outerchr19:35978449..35981928hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg383480
hg193480
hg183480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2573411
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)essv5381146
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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