A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628785



Internal ID6668927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20487022..20515584hg38UCSC Ensembl
chr12:20639956..20668518hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3828563
hg1928563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv258e214
Supporting Variantsessv14404200, essv14404199, essv14404198
SamplesHG01985, NA18977, NA19009
Known GenesPDE3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628785
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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