A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837391



Internal ID15081673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65519317..65519318hg38UCSC Ensembl
Innerchr2:65519290..65519345hg38UCSC Ensembl
Outerchr2:65519289..65519346hg38UCSC Ensembl
chr2:65746451..65746452hg19UCSC Ensembl
Innerchr2:65746424..65746479hg19UCSC Ensembl
Outerchr2:65746423..65746480hg19UCSC Ensembl
chr2:65599955..65599956hg18UCSC Ensembl
Innerchr2:65599983..65599928hg18UCSC Ensembl
Outerchr2:65599927..65599984hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309319
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837391
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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