A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307108



Internal ID15154056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20320944..20320945hg38UCSC Ensembl
Innerchr12:20320922..20320967hg38UCSC Ensembl
Outerchr12:20320921..20320968hg38UCSC Ensembl
chr12:20473878..20473879hg19UCSC Ensembl
Innerchr12:20473856..20473901hg19UCSC Ensembl
Outerchr12:20473855..20473902hg19UCSC Ensembl
chr12:20365145..20365146hg18UCSC Ensembl
Innerchr12:20365168..20365123hg18UCSC Ensembl
Outerchr12:20365122..20365169hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765454, essv7767570, essv7764850, essv7766038, essv7769851
SamplesNA07346, NA18970, NA12234, NA12249, NA12873
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307108
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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