A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843632



Internal ID13375162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51790815..51790815hg38UCSC Ensembl
chr8:52703375..52703375hg19UCSC Ensembl
chr8:52865928..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 StatusS
Merged Variantsesv3310553
Supporting Variants
SamplesNA12892
Known GenesPXDNL
MethodSequencing
AnalysisSOAP de-novo
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843632
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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