A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5268958



Internal ID8014007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:134664932..134666391hg38UCSC Ensembl
Outerchr7:134349684..134351143hg19UCSC Ensembl
Outerchr7:134000224..134001683hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381460
hg191460
hg181460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2541159
Supporting Variants
SamplesNA18507
Known GenesBPGM
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)essv5268958
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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