A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14394041



Internal ID4395857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14521604..14534335hg38UCSC Ensembl
Innerchr12:14521604..14534335hg38UCSC Ensembl
Outerchr12:14521426..14534581hg38UCSC Ensembl
chr12:14674538..14687269hg19UCSC Ensembl
Innerchr12:14674538..14687269hg19UCSC Ensembl
Outerchr12:14674360..14687515hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3812732
hg1912732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628652
Supporting Variants
SamplesHG02512
Known GenesPLBD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14394041
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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