A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14373939



Internal ID4375755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10143326..10179529hg38UCSC Ensembl
chr12:10295925..10332128hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3836204
hg1936204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628526
Supporting Variants
SamplesNA20320
Known GenesOLR1, TMEM52B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14373939
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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