A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8832547



Internal ID15109002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191390412..191390412hg38UCSC Ensembl
Innerchr3:191390411..191390413hg38UCSC Ensembl
Outerchr3:191390352..191390462hg38UCSC Ensembl
chr3:191108201..191108201hg19UCSC Ensembl
Innerchr3:191108200..191108202hg19UCSC Ensembl
Outerchr3:191108141..191108251hg19UCSC Ensembl
chr3:192590895..192590895hg18UCSC Ensembl
Innerchr3:192590896..192590894hg18UCSC Ensembl
Outerchr3:192590835..192590945hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3377157
Supporting Variants
SamplesNA19240
Known GenesCCDC50
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8832547
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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