A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5217604



Internal ID8309339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55992156..55993589hg38UCSC Ensembl
Outerchr4:56858322..56859755hg19UCSC Ensembl
Outerchr4:56553079..56554512hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381434
hg191434
hg181434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2653807
Supporting Variants
SamplesNA18507
Known GenesCEP135
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)essv5217604
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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