A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628550



Internal ID6668693
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14378433, essv14378434
SamplesHG03382, HG03572
Known GenesPRH1-PRR4, PRH2, TAS2R14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628550
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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