A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310443



Internal ID15157394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:26027562..26027562hg38UCSC Ensembl
Outerchr8:26027562..26027562hg38UCSC Ensembl
Innerchr8:25885078..25885078hg19UCSC Ensembl
Outerchr8:25885078..25885078hg19UCSC Ensembl
Innerchr8:25940995..25940995hg18UCSC Ensembl
Outerchr8:25940995..25940995hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843445
SamplesNA12878
Known GenesEBF2
MethodSequencing
AnalysisCortex reference assisted
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310443
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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