A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398582



Internal ID15245545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209447125..209447146hg38UCSC Ensembl
Innerchr1:209447091..209447180hg38UCSC Ensembl
Outerchr1:209447070..209447201hg38UCSC Ensembl
chr1:209620470..209620491hg19UCSC Ensembl
Innerchr1:209620436..209620525hg19UCSC Ensembl
Outerchr1:209620415..209620546hg19UCSC Ensembl
chr1:207687093..207687114hg18UCSC Ensembl
Innerchr1:207687148..207687059hg18UCSC Ensembl
Outerchr1:207687038..207687169hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863810
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398582
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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