A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5368117



Internal ID8113166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:17828236..17829850hg38UCSC Ensembl
Outerchr4:17829859..17831473hg19UCSC Ensembl
Outerchr4:17438957..17440571hg18UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg381615
hg191615
hg181615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2425595
Supporting Variants
SamplesNA18507
Known GenesNCAPG
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)essv5368117
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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