A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308737



Internal ID14809000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162822113..162822114hg38UCSC Ensembl
Innerchr2:162822087..162822140hg38UCSC Ensembl
Outerchr2:162822086..162822141hg38UCSC Ensembl
chr2:163678623..163678624hg19UCSC Ensembl
Innerchr2:163678597..163678650hg19UCSC Ensembl
Outerchr2:163678596..163678651hg19UCSC Ensembl
chr2:163386869..163386870hg18UCSC Ensembl
Innerchr2:163386896..163386843hg18UCSC Ensembl
Outerchr2:163386842..163386897hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38147
hg19147
hg18147
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838356, essv7836773, essv7837243, essv7838534, essv7838090, essv7837820
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesKCNH7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308737
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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