A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399215



Internal ID15246178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:95657418..95659616hg38UCSC Ensembl
Innerchr3:95658418..95658616hg38UCSC Ensembl
Outerchr3:95656418..95660616hg38UCSC Ensembl
chr3:95376262..95378460hg19UCSC Ensembl
Innerchr3:95377262..95377460hg19UCSC Ensembl
Outerchr3:95375262..95379460hg19UCSC Ensembl
chr3:96858952..96861150hg18UCSC Ensembl
Innerchr3:96859952..96860150hg18UCSC Ensembl
Outerchr3:96857952..96862150hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2745e59
Supporting Variantsessv8694186
SamplesNA19238
Known GenesMTHFD2P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399215
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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