A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2574928



Internal ID8638486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:85282580..85284226hg38UCSC Ensembl
Outerchr1:85748263..85749909hg19UCSC Ensembl
Outerchr1:85520851..85522497hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381647
hg191647
hg181647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5229260
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)esv2574928
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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