A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628740



Internal ID6668883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18687760..18692544hg38UCSC Ensembl
Innerchr12:18687791..18692514hg38UCSC Ensembl
Outerchr12:18687730..18692575hg38UCSC Ensembl
chr12:18840694..18845478hg19UCSC Ensembl
Innerchr12:18840725..18845448hg19UCSC Ensembl
Outerchr12:18840664..18845509hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg384785
hg194785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14401105
SamplesNA18945
Known GenesPLCZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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