A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628554



Internal ID7015378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10984460..10989296hg38UCSC Ensembl
chr12:11137059..11141895hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384837
hg194837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv251e214
Supporting Variantsessv14378629, essv14378621, essv14378625, essv14378624, essv14378628, essv14378623, essv14378622, essv14378627, essv14378626
SamplesHG03517, HG03082, HG02620, HG03055, HG01988, NA19401, HG02580, NA20510, NA19770
Known GenesPRH1-PRR4, TAS2R50
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628554
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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