A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14591169



Internal ID3009087
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630586
Supporting Variants
SamplesHG02652
Known GenesCCDC53
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14591169
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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