A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417276



Internal ID14917548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151777909..151777928hg38UCSC Ensembl
Innerchr5:151777905..151777932hg38UCSC Ensembl
Outerchr5:151777886..151777951hg38UCSC Ensembl
chr5:151157470..151157489hg19UCSC Ensembl
Innerchr5:151157466..151157493hg19UCSC Ensembl
Outerchr5:151157447..151157512hg19UCSC Ensembl
chr5:151137663..151137682hg18UCSC Ensembl
Innerchr5:151137686..151137659hg18UCSC Ensembl
Outerchr5:151137640..151137705hg18UCSC Ensembl
Cytoband5q33.1
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 Variantsessv8678957
SamplesNA19240
Known GenesG3BP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417276
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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