A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5308288



Internal ID8400023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53885026..53886457hg38UCSC Ensembl
Outerchr2:54112163..54113594hg19UCSC Ensembl
Outerchr2:53965667..53967098hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381432
hg191432
hg181432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2484606
Supporting Variants
SamplesNA18507
Known GenesPSME4
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)essv5308288
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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