A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365280



Internal ID15212257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3971087..3972585hg38UCSC Ensembl
Innerchr2:3971585..3972087hg38UCSC Ensembl
Outerchr2:3970087..3973585hg38UCSC Ensembl
chr2:4018677..4020175hg19UCSC Ensembl
Innerchr2:4019175..4019677hg19UCSC Ensembl
Outerchr2:4017677..4021175hg19UCSC Ensembl
chr2:3996552..3998050hg18UCSC Ensembl
Innerchr2:3997552..3997050hg18UCSC Ensembl
Outerchr2:3995552..3999050hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2048e59
Supporting Variantsessv8693648
SamplesNA19239
Known GenesLOC100505964
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365280
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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