A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2460654



Internal ID8524212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183552365..183553969hg38UCSC Ensembl
Outerchr4:184473518..184475122hg19UCSC Ensembl
Outerchr4:184710512..184712116hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381605
hg191605
hg181605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5380499
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)esv2460654
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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