A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394727



Internal ID15241691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:33631102..33631121hg38UCSC Ensembl
Innerchr4:33631098..33631125hg38UCSC Ensembl
Outerchr4:33631079..33631144hg38UCSC Ensembl
chr4:33632724..33632743hg19UCSC Ensembl
Innerchr4:33632720..33632747hg19UCSC Ensembl
Outerchr4:33632701..33632766hg19UCSC Ensembl
chr4:33309119..33309138hg18UCSC Ensembl
Innerchr4:33309142..33309115hg18UCSC Ensembl
Outerchr4:33309096..33309161hg18UCSC Ensembl
Cytoband4p15.1
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 Variantsessv8678870
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394727
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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