A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631283



Internal ID6671411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131955373..132034125hg38UCSC Ensembl
chr12:132439918..132518670hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3878753
hg1978753
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14646865
SamplesHG04182
Known GenesEP400, SNORA49
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631283
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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