A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302544



Internal ID14802805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14843254..14843766hg38UCSC Ensembl
Innerchr12:14843354..14843666hg38UCSC Ensembl
Outerchr12:14843154..14843866hg38UCSC Ensembl
chr12:14996188..14996700hg19UCSC Ensembl
Innerchr12:14996288..14996600hg19UCSC Ensembl
Outerchr12:14996088..14996800hg19UCSC Ensembl
chr12:14887455..14887967hg18UCSC Ensembl
Innerchr12:14887555..14887867hg18UCSC Ensembl
Outerchr12:14887355..14888067hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38513
hg19513
hg18513
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731285
SamplesNA19239
Known GenesART4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302544
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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