A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5253303



Internal ID8345038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:67608982..67610016hg38UCSC Ensembl
Outerchr15:67901320..67902354hg19UCSC Ensembl
Outerchr15:65688374..65689408hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38177
hg19177
hg18177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2571443
Supporting Variants
SamplesNA18507
Known GenesMAP2K5
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)essv5253303
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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