A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630536



Internal ID6670672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99703554..99740836hg38UCSC Ensembl
Innerchr12:99703579..99740812hg38UCSC Ensembl
Outerchr12:99703530..99740861hg38UCSC Ensembl
chr12:100097332..100134614hg19UCSC Ensembl
Innerchr12:100097357..100134590hg19UCSC Ensembl
Outerchr12:100097308..100134639hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3837283
hg1937283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14587030, essv14587031
SamplesNA21111, NA21093
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630536
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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