A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351835



Internal ID15198816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31914963..31914984hg38UCSC Ensembl
Innerchr2:31914931..31915016hg38UCSC Ensembl
Outerchr2:31914910..31915037hg38UCSC Ensembl
chr2:32140032..32140053hg19UCSC Ensembl
Innerchr2:32140000..32140085hg19UCSC Ensembl
Outerchr2:32139979..32140106hg19UCSC Ensembl
chr2:31993536..31993557hg18UCSC Ensembl
Innerchr2:31993589..31993504hg18UCSC Ensembl
Outerchr2:31993483..31993610hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863884
SamplesNA12005
Known GenesMEMO1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351835
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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