A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843625



Internal ID13375150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49421165..49421165hg38UCSC Ensembl
chr3:49458598..49458598hg19UCSC Ensembl
chr3:49433602..49433602hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38559
hg19559
hg18559
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310568
Supporting Variants
SamplesNA12892
Known GenesAMT
MethodSequencing
AnalysisSOAP de-novo
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843625
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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