A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693650



Internal ID15074528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3971187..3972385hg38UCSC Ensembl
Innerchr2:3971385..3972187hg38UCSC Ensembl
Outerchr2:3970187..3973385hg38UCSC Ensembl
chr2:4018777..4019975hg19UCSC Ensembl
Innerchr2:4018975..4019777hg19UCSC Ensembl
Outerchr2:4017777..4020975hg19UCSC Ensembl
chr2:3996652..3997850hg18UCSC Ensembl
Innerchr2:3997652..3996850hg18UCSC Ensembl
Outerchr2:3995652..3998850hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369661
Supporting Variants
SamplesNA19240
Known GenesLOC100505964
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693650
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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