A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438200



Internal ID15285153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198642891..198642891hg38UCSC Ensembl
Innerchr1:198642890..198642892hg38UCSC Ensembl
Outerchr1:198642851..198642911hg38UCSC Ensembl
chr1:198612021..198612021hg19UCSC Ensembl
Innerchr1:198612020..198612022hg19UCSC Ensembl
Outerchr1:198611981..198612041hg19UCSC Ensembl
chr1:196878644..196878644hg18UCSC Ensembl
Innerchr1:196878645..196878643hg18UCSC Ensembl
Outerchr1:196878604..196878664hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8639313
Samples
Known GenesPTPRC
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438200
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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