A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350141



Internal ID15197123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38187328..38187342hg38UCSC Ensembl
Innerchr2:38187330..38187340hg38UCSC Ensembl
Outerchr2:38187326..38187344hg38UCSC Ensembl
chr2:38414470..38414484hg19UCSC Ensembl
Innerchr2:38414472..38414482hg19UCSC Ensembl
Outerchr2:38414468..38414486hg19UCSC Ensembl
chr2:38267974..38267988hg18UCSC Ensembl
Innerchr2:38267976..38267986hg18UCSC Ensembl
Outerchr2:38267972..38267990hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863890
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350141
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer