A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679349



Internal ID14762425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30786488..30786507hg38UCSC Ensembl
Innerchr8:30786484..30786511hg38UCSC Ensembl
Outerchr8:30786465..30786530hg38UCSC Ensembl
chr8:30644004..30644023hg19UCSC Ensembl
Innerchr8:30644000..30644027hg19UCSC Ensembl
Outerchr8:30643981..30644046hg19UCSC Ensembl
chr8:30763546..30763565hg18UCSC Ensembl
Innerchr8:30763569..30763542hg18UCSC Ensembl
Outerchr8:30763523..30763588hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386082
Supporting Variants
SamplesNA19240
Known GenesPPP2CB
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679349
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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