A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678674



Internal ID9598093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11019245..11074898hg38UCSC Ensembl
chr12:11171844..11227497hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3855654
hg1955654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv265e199
Supporting Variantsessv5772704, essv6069120, essv5746294, essv6531250, essv5521863, essv6156843, essv5643014, essv6586941
SamplesNA19062, NA20775, NA18985, NA18908, HG01047, HG00146, NA18961, HG00123
Known GenesPRH1-PRR4, TAS2R19, TAS2R31, TAS2R46
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678674
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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