A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14404205



Internal ID4406021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20659008..20663746hg38UCSC Ensembl
Innerchr12:20659008..20663746hg38UCSC Ensembl
Outerchr12:20658804..20663881hg38UCSC Ensembl
chr12:20811942..20816680hg19UCSC Ensembl
Innerchr12:20811942..20816680hg19UCSC Ensembl
Outerchr12:20811738..20816815hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg384739
hg194739
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628787
Supporting Variants
SamplesNA19916
Known GenesPDE3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14404205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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