A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344771



Internal ID15191755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135170244..135170263hg38UCSC Ensembl
Innerchr5:135170240..135170267hg38UCSC Ensembl
Outerchr5:135170221..135170286hg38UCSC Ensembl
chr5:134505934..134505953hg19UCSC Ensembl
Innerchr5:134505930..134505957hg19UCSC Ensembl
Outerchr5:134505911..134505976hg19UCSC Ensembl
chr5:134533833..134533852hg18UCSC Ensembl
Innerchr5:134533856..134533829hg18UCSC Ensembl
Outerchr5:134533810..134533875hg18UCSC Ensembl
Cytoband5q31.1
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 Variantsessv8678947
SamplesNA12878
Known GenesC5orf66
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344771
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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