A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628807



Internal ID6668949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21421601..21463902hg38UCSC Ensembl
chr12:21574535..21616836hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3842302
hg1942302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14406178
SamplesHG01435
Known GenesPYROXD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628807
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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