A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674831



Internal ID15077744
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 StatusS
Merged Variantsesv3358737
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674831
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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