A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335764



Internal ID14836037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160785422..160785433hg38UCSC Ensembl
Innerchr5:160785424..160785431hg38UCSC Ensembl
Outerchr5:160785420..160785435hg38UCSC Ensembl
chr5:160212429..160212440hg19UCSC Ensembl
Innerchr5:160212431..160212438hg19UCSC Ensembl
Outerchr5:160212427..160212442hg19UCSC Ensembl
chr5:160145007..160145018hg18UCSC Ensembl
Innerchr5:160145009..160145016hg18UCSC Ensembl
Outerchr5:160145005..160145020hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864533
SamplesNA12005
Known GenesATP10B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335764
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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