A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630537



Internal ID6670673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99708995..99758906hg38UCSC Ensembl
chr12:100102773..100152684hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3849912
hg1949912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14587032
SamplesNA21111
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630537
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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