A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5241934



Internal ID8333669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137769374..137770996hg38UCSC Ensembl
Outerchr7:137454120..137455742hg19UCSC Ensembl
Outerchr7:137104660..137106282hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381623
hg191623
hg181623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2428797
Supporting Variants
SamplesNA18507
Known GenesDGKI
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)essv5241934
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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