A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310553



Internal ID14810818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51790815..51790815hg38UCSC Ensembl
Outerchr8:51790815..51790815hg38UCSC Ensembl
Innerchr8:52703375..52703375hg19UCSC Ensembl
Outerchr8:52703375..52703375hg19UCSC Ensembl
Innerchr8:52865928..52865928hg18UCSC Ensembl
Outerchr8:52865928..52865928hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382150
hg192150
hg182150
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843632, essv7843587, essv7843604
SamplesNA12892, NA12891, NA12878
Known GenesPXDNL
MethodSequencing
AnalysisSOAP de-novo
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310553
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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