A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374239



Internal ID15221214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29215882..29217380hg38UCSC Ensembl
Innerchr2:29216380..29216882hg38UCSC Ensembl
Outerchr2:29214882..29218380hg38UCSC Ensembl
chr2:29438748..29440246hg19UCSC Ensembl
Innerchr2:29439246..29439748hg19UCSC Ensembl
Outerchr2:29437748..29441246hg19UCSC Ensembl
chr2:29292252..29293750hg18UCSC Ensembl
Innerchr2:29293252..29292750hg18UCSC Ensembl
Outerchr2:29291252..29294750hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693617
SamplesNA19239
Known GenesALK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374239
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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