A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373801



Internal ID15220776
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8906840, essv8906822, essv8906841, essv8906831, essv8906826, essv8906834, essv8906838, essv8906833, essv8906832, essv8906821, essv8906837, essv8906843, essv8906835, essv8906823, essv8906820, essv8906828, essv8906819, essv8906842, essv8906839, essv8906830, essv8906824, essv8906827, essv8906829
SamplesNA12717, NA18561, NA12004, NA18510, NA18519, NA18558, NA18960, NA18582, NA19138, NA11993, NA10847, NA12003, NA18579, NA18572, NA12249, NA18523, NA18570, NA18576, NA18952, NA07037, NA12154, NA18965, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373801
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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