A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630520



Internal ID6670656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99051318..99121883hg38UCSC Ensembl
chr12:99445096..99515661hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3870566
hg1970566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv297e214
Supporting Variantsessv14586044, essv14586043, essv14586042
SamplesHG01086, NA19316, NA19434
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630520
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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