A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2455976



Internal ID8172848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111154558..111156033hg38UCSC Ensembl
Outerchr1:111697180..111698655hg19UCSC Ensembl
Outerchr1:111498703..111500178hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381476
hg191476
hg181476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5393215
SamplesNA18507
Known GenesCEPT1
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)esv2455976
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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