A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8955387



Internal ID14569254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1327184..1327216hg38UCSC Ensembl
Innerchr12:1327191..1327207hg38UCSC Ensembl
Outerchr12:1327161..1327239hg38UCSC Ensembl
chr12:1436350..1436382hg19UCSC Ensembl
Innerchr12:1436357..1436373hg19UCSC Ensembl
Outerchr12:1436327..1436405hg19UCSC Ensembl
chr12:1306611..1306643hg18UCSC Ensembl
Innerchr12:1306634..1306618hg18UCSC Ensembl
Outerchr12:1306588..1306666hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368545
Supporting Variants
SamplesNA19147
Known GenesERC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8955387
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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