A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2552928



Internal ID8269800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179751305..179752790hg38UCSC Ensembl
Outerchr1:179720440..179721925hg19UCSC Ensembl
Outerchr1:177987063..177988548hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381486
hg191486
hg181486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5194999
SamplesNA18507
Known GenesFAM163A
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)esv2552928
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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