A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14596814



Internal ID4598630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104203244..104250924hg38UCSC Ensembl
chr12:104597022..104644702hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3847681
hg1947681
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630630
Supporting Variants
SamplesHG01976
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14596814
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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