A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669235



Internal ID9935340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30462720..30463284hg38UCSC Ensembl
Outerchr12:30462563..30463437hg38UCSC Ensembl
Innerchr12:30615653..30616217hg19UCSC Ensembl
Outerchr12:30615496..30616370hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38875
hg19875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5744835, essv5708882
SamplesNA18602, NA18952
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669235
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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