A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415558



Internal ID15262517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3971187..3972285hg38UCSC Ensembl
Innerchr2:3971285..3972187hg38UCSC Ensembl
Outerchr2:3970187..3973285hg38UCSC Ensembl
chr2:4018777..4019875hg19UCSC Ensembl
Innerchr2:4018875..4019777hg19UCSC Ensembl
Outerchr2:4017777..4020875hg19UCSC Ensembl
chr2:3996652..3997750hg18UCSC Ensembl
Innerchr2:3997652..3996750hg18UCSC Ensembl
Outerchr2:3995652..3998750hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2048e59
Supporting Variantsessv8693649
SamplesNA19238
Known GenesLOC100505964
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415558
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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