A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5229240



Internal ID8320975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:125140899..125142751hg38UCSC Ensembl
Outerchr6:125462045..125463897hg19UCSC Ensembl
Outerchr6:125503744..125505596hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381853
hg191853
hg181853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2429609
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)essv5229240
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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