A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5187196



Internal ID8278931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39133762..39135160hg38UCSC Ensembl
Outerchr19:39624402..39625800hg19UCSC Ensembl
Outerchr19:44316242..44317640hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2545161
Supporting Variants
SamplesNA18507
Known GenesPAK4
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)essv5187196
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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