A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630586



Internal ID7017403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102040830..102056207hg38UCSC Ensembl
chr12:102434608..102449985hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3815378
hg1915378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14591169
SamplesHG02652
Known GenesCCDC53
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630586
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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