A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432428



Internal ID14932698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3693628..3695026hg38UCSC Ensembl
Innerchr1:3694026..3694628hg38UCSC Ensembl
Outerchr1:3692628..3696026hg38UCSC Ensembl
chr1:3610192..3611590hg19UCSC Ensembl
Innerchr1:3610590..3611192hg19UCSC Ensembl
Outerchr1:3609192..3612590hg19UCSC Ensembl
chr1:3600052..3601450hg18UCSC Ensembl
Innerchr1:3601052..3600450hg18UCSC Ensembl
Outerchr1:3599052..3602450hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27e59
Supporting Variantsessv8692310
SamplesNA19240
Known GenesTP73
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432428
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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