A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399130



Internal ID14899407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66637065..66637084hg38UCSC Ensembl
Innerchr2:66637061..66637088hg38UCSC Ensembl
Outerchr2:66637042..66637107hg38UCSC Ensembl
chr2:66864197..66864216hg19UCSC Ensembl
Innerchr2:66864193..66864220hg19UCSC Ensembl
Outerchr2:66864174..66864239hg19UCSC Ensembl
chr2:66717701..66717720hg18UCSC Ensembl
Innerchr2:66717724..66717697hg18UCSC Ensembl
Outerchr2:66717678..66717743hg18UCSC Ensembl
Cytoband2p14
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 Variantsessv9602391
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399130
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer