A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4986212



Internal ID7571844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87408473..87408592hg38UCSC Ensembl
Outerchr6:87408265..87408782hg38UCSC Ensembl
Innerchr6:88118191..88118310hg19UCSC Ensembl
Outerchr6:88117983..88118500hg19UCSC Ensembl
Innerchr6:88174910..88175029hg18UCSC Ensembl
Outerchr6:88174702..88175219hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38518
hg19518
hg18518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1979464
Supporting Variants
SamplesNA18507
Known GenesC6orf165
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)essv4986212
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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