A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14378433



Internal ID4380249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10925203..10950111hg38UCSC Ensembl
Innerchr12:10925221..10950094hg38UCSC Ensembl
Outerchr12:10925186..10950129hg38UCSC Ensembl
chr12:11077802..11102710hg19UCSC Ensembl
Innerchr12:11077820..11102693hg19UCSC Ensembl
Outerchr12:11077785..11102728hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3824909
hg1924909
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628550
Supporting Variants
SamplesHG03382
Known GenesPRH1-PRR4, PRH2, TAS2R14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14378433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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