A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5228230



Internal ID8319965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14396449..14397129hg38UCSC Ensembl
Outerchr3:14437949..14438629hg19UCSC Ensembl
Outerchr3:14412953..14413633hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38568
hg19568
hg18568
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2500269
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)essv5228230
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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