A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674351



Internal ID9940456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11275246..11320874hg38UCSC Ensembl
chr12:11428180..11473808hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3845629
hg1945629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6389188, essv6415691, essv5797323, essv5595544, essv6096838, essv5654071, essv5629343, essv6166742, essv6216794, essv6354350, essv6502424, essv6002615, essv6123270, essv5785520, essv5740877, essv5780988, essv5957298, essv6066261, essv6403760, essv6384864, essv6136532, essv5439506, essv6572315, essv6373971, essv6265118, essv6032693, essv6527381, essv6473520, essv5677696, essv5654850, essv5974709, essv5746212, essv5580255, essv5519514, essv6088033
SamplesHG01441, HG00449, HG01051, HG00693, HG01250, HG01070, HG00281, NA12275, HG00325, NA11994, NA18986, HG01440, HG00637, HG01550, HG00108, NA19437, HG01171, HG00328, HG01095, HG00320, HG00533, NA20344, HG01073, HG00331, NA19750, HG01107, HG00336, HG00375, HG00734, NA19835, HG00607, HG00125, HG00578, HG00267, HG01125
Known GenesPRB4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674351
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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