A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388970



Internal ID14889251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215227574..215227593hg38UCSC Ensembl
Innerchr1:215227570..215227597hg38UCSC Ensembl
Outerchr1:215227551..215227616hg38UCSC Ensembl
chr1:215400917..215400936hg19UCSC Ensembl
Innerchr1:215400913..215400940hg19UCSC Ensembl
Outerchr1:215400894..215400959hg19UCSC Ensembl
chr1:213467540..213467559hg18UCSC Ensembl
Innerchr1:213467563..213467536hg18UCSC Ensembl
Outerchr1:213467517..213467582hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9598091
SamplesNA12287
Known GenesKCNK2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388970
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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