A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674301



Internal ID9593720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:3072480..3073756hg38UCSC Ensembl
chr10:3114672..3115948hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg381277
hg191277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6051267, essv6391382, essv5701637, essv5439302, essv5475001, essv5895999, essv5747303, essv5681793, essv5849148, essv6097238, essv6496489, essv5976469
SamplesNA20761, HG01079, HG01066, NA20805, NA20806, NA12489, NA19663, HG00152, NA18858, NA20801, NA12775, NA12890
Known GenesPFKP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674301
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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