A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701416



Internal ID13643446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149875898..149875898hg38UCSC Ensembl
Innerchr3:149875897..149875899hg38UCSC Ensembl
Outerchr3:149875848..149875948hg38UCSC Ensembl
chr3:149593685..149593685hg19UCSC Ensembl
Innerchr3:149593684..149593686hg19UCSC Ensembl
Outerchr3:149593635..149593735hg19UCSC Ensembl
chr3:151076375..151076375hg18UCSC Ensembl
Innerchr3:151076376..151076374hg18UCSC Ensembl
Outerchr3:151076325..151076425hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353996
Supporting Variants
SamplesNA12878
Known GenesRNF13
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701416
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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