A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358737



Internal ID15205716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65519320..65519332hg38UCSC Ensembl
Innerchr2:65519314..65519336hg38UCSC Ensembl
Outerchr2:65519304..65519348hg38UCSC Ensembl
chr2:65746454..65746466hg19UCSC Ensembl
Innerchr2:65746448..65746470hg19UCSC Ensembl
Outerchr2:65746438..65746482hg19UCSC Ensembl
chr2:65599958..65599970hg18UCSC Ensembl
Innerchr2:65599974..65599952hg18UCSC Ensembl
Outerchr2:65599942..65599986hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674836, essv8674835, essv8674831, essv8674834, essv8674833
SamplesNA12891, NA19238, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358737
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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