A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310467



Internal ID15157418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:13152465..13152465hg38UCSC Ensembl
Outerchr18:13152465..13152465hg38UCSC Ensembl
Innerchr18:13152464..13152464hg19UCSC Ensembl
Outerchr18:13152464..13152464hg19UCSC Ensembl
Innerchr18:13142464..13142464hg18UCSC Ensembl
Outerchr18:13142464..13142464hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843398
SamplesNA12878
Known Genes
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310467
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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