A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673080



Internal ID9939185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109194490..109194622hg38UCSC Ensembl
chr12:109632295..109632427hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6348696, essv5829624, essv5797732, essv6250306, essv5661205, essv5791802, essv6447655, essv5506477, essv5900044, essv6355565, essv5737564, essv5693834, essv5922530, essv6352938, essv6431579, essv5769680, essv5839399, essv6367235
SamplesHG00318, HG01070, HG01351, HG00277, HG00323, HG00260, HG00137, HG00500, HG00324, HG00284, HG00613, NA18632, NA18559, HG00237, HG00319, HG00125, HG00310, NA18623
Known GenesACACB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673080
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer