A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629801



Internal ID6669940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66277937..66308122hg38UCSC Ensembl
chr12:66671717..66701902hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3830186
hg1930186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14517239
SamplesNA18749
Known GenesHELB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629801
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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