A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427751



Internal ID15274707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109865530..109865530hg38UCSC Ensembl
Innerchr5:109865529..109865531hg38UCSC Ensembl
Outerchr5:109865470..109865580hg38UCSC Ensembl
chr5:109201231..109201231hg19UCSC Ensembl
Innerchr5:109201230..109201232hg19UCSC Ensembl
Outerchr5:109201171..109201281hg19UCSC Ensembl
chr5:109229130..109229130hg18UCSC Ensembl
Innerchr5:109229131..109229129hg18UCSC Ensembl
Outerchr5:109229070..109229180hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8835233
SamplesNA12878
Known GenesMAN2A1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427751
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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