A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368866



Internal ID15215842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151265358..151265368hg38UCSC Ensembl
Innerchr4:151265338..151265388hg38UCSC Ensembl
Outerchr4:151265328..151265398hg38UCSC Ensembl
chr4:152186510..152186520hg19UCSC Ensembl
Innerchr4:152186490..152186540hg19UCSC Ensembl
Outerchr4:152186480..152186550hg19UCSC Ensembl
chr4:152405960..152405970hg18UCSC Ensembl
Innerchr4:152405990..152405940hg18UCSC Ensembl
Outerchr4:152405930..152406000hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864382
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368866
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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