A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310430



Internal ID15157381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124141838..124141838hg38UCSC Ensembl
Outerchr8:124141838..124141838hg38UCSC Ensembl
Innerchr8:125154079..125154079hg19UCSC Ensembl
Outerchr8:125154079..125154079hg19UCSC Ensembl
Innerchr8:125223260..125223260hg18UCSC Ensembl
Outerchr8:125223260..125223260hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843420
SamplesNA12878
Known GenesFER1L6-AS2
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310430
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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