A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308379



Internal ID15155328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127881321..127881322hg38UCSC Ensembl
Innerchr2:127881302..127881341hg38UCSC Ensembl
Outerchr2:127881301..127881342hg38UCSC Ensembl
chr2:128638895..128638896hg19UCSC Ensembl
Innerchr2:128638876..128638915hg19UCSC Ensembl
Outerchr2:128638875..128638916hg19UCSC Ensembl
chr2:128355365..128355366hg18UCSC Ensembl
Innerchr2:128355385..128355346hg18UCSC Ensembl
Outerchr2:128355345..128355386hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841211, essv7840010
SamplesNA12878, NA12892
Known GenesAMMECR1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308379
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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