A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360462



Internal ID15207441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70570558..70570577hg38UCSC Ensembl
Innerchr2:70570554..70570581hg38UCSC Ensembl
Outerchr2:70570535..70570600hg38UCSC Ensembl
chr2:70797690..70797709hg19UCSC Ensembl
Innerchr2:70797686..70797713hg19UCSC Ensembl
Outerchr2:70797667..70797732hg19UCSC Ensembl
chr2:70651198..70651217hg18UCSC Ensembl
Innerchr2:70651221..70651194hg18UCSC Ensembl
Outerchr2:70651175..70651240hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9602447, essv9602435, essv9602469, essv9602458, essv9602480
SamplesNA12814, NA11840, NA12249, NA11881, NA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360462
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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