A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308604



Internal ID14808867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81846356..81846357hg38UCSC Ensembl
Innerchr1:81846340..81846373hg38UCSC Ensembl
Outerchr1:81846339..81846374hg38UCSC Ensembl
chr1:82312041..82312042hg19UCSC Ensembl
Innerchr1:82312025..82312058hg19UCSC Ensembl
Outerchr1:82312024..82312059hg19UCSC Ensembl
chr1:82084629..82084630hg18UCSC Ensembl
Innerchr1:82084646..82084613hg18UCSC Ensembl
Outerchr1:82084612..82084647hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842027, essv7843273
SamplesNA19239, NA19240
Known GenesLPHN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308604
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer