A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2523478



Internal ID8587036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235373189..235375638hg38UCSC Ensembl
Outerchr1:235536504..235538953hg19UCSC Ensembl
Outerchr1:233603127..233605576hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382450
hg192450
hg182450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5252271
SamplesNA18507
Known GenesTBCE
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)esv2523478
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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