A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445788



Internal ID15292738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218085357..218085379hg38UCSC Ensembl
Innerchr2:218085324..218085412hg38UCSC Ensembl
Outerchr2:218085302..218085434hg38UCSC Ensembl
chr2:218950080..218950102hg19UCSC Ensembl
Innerchr2:218950047..218950135hg19UCSC Ensembl
Outerchr2:218950025..218950157hg19UCSC Ensembl
chr2:218658325..218658347hg18UCSC Ensembl
Innerchr2:218658380..218658292hg18UCSC Ensembl
Outerchr2:218658270..218658402hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864096
SamplesNA12005
Known GenesRUFY4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445788
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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