A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5218809



Internal ID8310544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:154929836..154931298hg38UCSC Ensembl
Outerchr3:154647625..154649087hg19UCSC Ensembl
Outerchr3:156130319..156131781hg18UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg381463
hg191463
hg181463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2605540
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)essv5218809
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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