A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384045



Internal ID14884324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3213788..3213807hg38UCSC Ensembl
Innerchr1:3213784..3213811hg38UCSC Ensembl
Outerchr1:3213765..3213830hg38UCSC Ensembl
chr1:3130352..3130371hg19UCSC Ensembl
Innerchr1:3130348..3130375hg19UCSC Ensembl
Outerchr1:3130329..3130394hg19UCSC Ensembl
chr1:3120212..3120231hg18UCSC Ensembl
Innerchr1:3120235..3120208hg18UCSC Ensembl
Outerchr1:3120189..3120254hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678397
SamplesNA19240
Known GenesPRDM16
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384045
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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