A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7796073



Internal ID14023146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105437111..105437112hg38UCSC Ensembl
Innerchr12:105437094..105437129hg38UCSC Ensembl
Outerchr12:105437093..105437130hg38UCSC Ensembl
chr12:105830889..105830890hg19UCSC Ensembl
Innerchr12:105830872..105830907hg19UCSC Ensembl
Outerchr12:105830871..105830908hg19UCSC Ensembl
chr12:104355019..104355020hg18UCSC Ensembl
Innerchr12:104355037..104355002hg18UCSC Ensembl
Outerchr12:104355001..104355038hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304805
Supporting Variants
SamplesNA18550
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7796073
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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