A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688679



Internal ID14737498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3268225..3269623hg38UCSC Ensembl
Innerchr12:3268623..3269225hg38UCSC Ensembl
Outerchr12:3267225..3270623hg38UCSC Ensembl
chr12:3377391..3378789hg19UCSC Ensembl
Innerchr12:3377789..3378391hg19UCSC Ensembl
Outerchr12:3376391..3379789hg19UCSC Ensembl
chr12:3247652..3249050hg18UCSC Ensembl
Innerchr12:3248652..3248050hg18UCSC Ensembl
Outerchr12:3246652..3250050hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3378997
Supporting Variants
SamplesNA19240
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688679
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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