A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308939



Internal ID14809202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168718163..168718164hg38UCSC Ensembl
Innerchr5:168718141..168718186hg38UCSC Ensembl
Outerchr5:168718140..168718187hg38UCSC Ensembl
chr5:168145168..168145169hg19UCSC Ensembl
Innerchr5:168145146..168145191hg19UCSC Ensembl
Outerchr5:168145145..168145192hg19UCSC Ensembl
chr5:168077746..168077747hg18UCSC Ensembl
Innerchr5:168077769..168077724hg18UCSC Ensembl
Outerchr5:168077723..168077770hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839345
SamplesNA19240
Known GenesSLIT3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308939
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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