A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3437519



Internal ID15284472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195457836..195457836hg38UCSC Ensembl
Innerchr2:195457835..195457837hg38UCSC Ensembl
Outerchr2:195457786..195457886hg38UCSC Ensembl
chr2:196322560..196322560hg19UCSC Ensembl
Innerchr2:196322559..196322561hg19UCSC Ensembl
Outerchr2:196322510..196322610hg19UCSC Ensembl
chr2:196030805..196030805hg18UCSC Ensembl
Innerchr2:196030806..196030804hg18UCSC Ensembl
Outerchr2:196030755..196030855hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701394
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3437519
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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