A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9602458



Internal ID13619650
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 StatusS
Merged Variantsesv3360462
Supporting Variants
SamplesNA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9602458
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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