A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310544



Internal ID14810809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28113475..28113475hg38UCSC Ensembl
Outerchr8:28113475..28113475hg38UCSC Ensembl
Innerchr8:27970992..27970992hg19UCSC Ensembl
Outerchr8:27970992..27970992hg19UCSC Ensembl
Innerchr8:28026911..28026911hg18UCSC Ensembl
Outerchr8:28026911..28026911hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843395
SamplesNA12878
Known GenesELP3
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310544
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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