A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411905



Internal ID15258864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68895219..68895238hg38UCSC Ensembl
Innerchr5:68895215..68895242hg38UCSC Ensembl
Outerchr5:68895196..68895261hg38UCSC Ensembl
chr5:68191046..68191065hg19UCSC Ensembl
Innerchr5:68191042..68191069hg19UCSC Ensembl
Outerchr5:68191023..68191088hg19UCSC Ensembl
chr5:68226802..68226821hg18UCSC Ensembl
Innerchr5:68226825..68226798hg18UCSC Ensembl
Outerchr5:68226779..68226844hg18UCSC Ensembl
Cytoband5q13.1
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 Variantsessv9622725
SamplesNA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411905
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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