A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630533



Internal ID6670669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99667492..99710631hg38UCSC Ensembl
Innerchr12:99667492..99710631hg38UCSC Ensembl
Outerchr12:99666992..99711131hg38UCSC Ensembl
chr12:100061270..100104409hg19UCSC Ensembl
Innerchr12:100061270..100104409hg19UCSC Ensembl
Outerchr12:100060770..100104909hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3843140
hg1943140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14587018
SamplesNA20287
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630533
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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