A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693599



Internal ID14690397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2643773..2644471hg38UCSC Ensembl
Innerchr2:2643772..2644472hg38UCSC Ensembl
Outerchr2:2642773..2645471hg38UCSC Ensembl
chr2:2647545..2648243hg19UCSC Ensembl
Innerchr2:2647544..2648244hg19UCSC Ensembl
Outerchr2:2646545..2649243hg19UCSC Ensembl
chr2:2626552..2627250hg18UCSC Ensembl
Innerchr2:2627251..2626551hg18UCSC Ensembl
Outerchr2:2625552..2628250hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3421134
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693599
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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