A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8906834



Internal ID14910344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65519314..65519333hg38UCSC Ensembl
Innerchr2:65519315..65519332hg38UCSC Ensembl
Outerchr2:65519296..65519351hg38UCSC Ensembl
chr2:65746448..65746467hg19UCSC Ensembl
Innerchr2:65746449..65746466hg19UCSC Ensembl
Outerchr2:65746430..65746485hg19UCSC Ensembl
chr2:65599952..65599971hg18UCSC Ensembl
Innerchr2:65599970..65599953hg18UCSC Ensembl
Outerchr2:65599934..65599989hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381588
hg191588
hg181588
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3373801
Supporting Variants
SamplesNA19138
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8906834
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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