A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14456438



Internal ID1984007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41386895..41427313hg38UCSC Ensembl
chr12:41780697..41821115hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3840419
hg1940419
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629311
Supporting Variants
SamplesHG01844
Known GenesPDZRN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14456438
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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