A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628756



Internal ID7015580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19315053..19431350hg38UCSC Ensembl
chr12:19467987..19584284hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38116298
hg19116298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14401360, essv14401358, essv14401365, essv14401359, essv14401362, essv14401363, essv14401361, essv14401364
SamplesHG03490, HG02085, NA20515, NA20755, NA20854, HG01104, NA19834, NA20516
Known GenesPLEKHA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628756
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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