A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670820



Internal ID9590239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132149211..132150747hg38UCSC Ensembl
chr12:132633756..132635292hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381537
hg191537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5822839, essv6356905, essv6506690, essv5845780, essv6482773, essv5531531, essv6369086, essv5608557, essv5906956, essv6256165, essv5715246, essv6596643, essv5428629, essv5733777, essv5949494, essv6082858, essv5842098, essv5477829, essv5767876, essv6520774, essv6364391, essv6514220, essv5623461
SamplesHG00671, NA19066, HG01066, NA19819, HG00589, HG00277, HG01067, NA20819, NA18986, HG00253, NA19437, HG00443, HG00583, HG01101, HG00704, NA19682, NA19625, NA19375, NA20778, NA19467, NA18610, HG00269, HG00581
Known GenesNOC4L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670820
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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