A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665219



Internal ID9931324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11029212..11060158hg38UCSC Ensembl
chr12:11181811..11212757hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3830947
hg1930947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267e199
Supporting Variantsessv6483328, essv6078471, essv5797985, essv5927024, essv6301617, essv5930957, essv5704826, essv6225317, essv6247867, essv5517358, essv6190267, essv5460796, essv6388175, essv6299481, essv5828359, essv5477729, essv5854860, essv6172310, essv5863132, essv6296417, essv6145440, essv6406787, essv5869802
SamplesHG00143, NA20508, NA19066, NA19092, HG01140, NA19660, HG00251, HG00281, HG00120, HG00335, HG00118, HG00133, HG00245, NA18548, HG00284, HG00250, HG00276, NA18536, HG00258, HG00476, HG00254, HG00707, HG00147
Known GenesPRH1-PRR4, TAS2R31
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665219
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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