A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414499



Internal ID15261458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190613965..190613984hg38UCSC Ensembl
Innerchr2:190613961..190613988hg38UCSC Ensembl
Outerchr2:190613942..190614007hg38UCSC Ensembl
chr2:191478691..191478710hg19UCSC Ensembl
Innerchr2:191478687..191478714hg19UCSC Ensembl
Outerchr2:191478668..191478733hg19UCSC Ensembl
chr2:191186936..191186955hg18UCSC Ensembl
Innerchr2:191186959..191186932hg18UCSC Ensembl
Outerchr2:191186913..191186978hg18UCSC Ensembl
Cytoband2q32.2
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 Variantsessv9606035, essv9606013, essv9606024
SamplesNA12812, NA11918, NA11881
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414499
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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