A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399556



Internal ID15246519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237211370..237213468hg38UCSC Ensembl
Innerchr2:237212370..237212468hg38UCSC Ensembl
Outerchr2:237210370..237214468hg38UCSC Ensembl
chr2:238120013..238122111hg19UCSC Ensembl
Innerchr2:238121013..238121111hg19UCSC Ensembl
Outerchr2:238119013..238123111hg19UCSC Ensembl
chr2:237784752..237786850hg18UCSC Ensembl
Innerchr2:237785752..237785850hg18UCSC Ensembl
Outerchr2:237783752..237787850hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2367e59
Supporting Variantsessv8693532
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399556
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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