A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14404200



Internal ID4406016
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628785
Supporting Variants
SamplesNA19009
Known GenesPDE3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14404200
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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