A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14546381



Internal ID4291310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79306506..79323290hg38UCSC Ensembl
chr12:79700286..79717070hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3816785
hg1916785
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630075
Supporting Variants
SamplesHG03851
Known GenesSYT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14546381
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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