A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629028



Internal ID6669168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30948388..30974250hg38UCSC Ensembl
chr12:31101322..31127185hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3825863
hg1925864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14431749
SamplesNA19374
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629028
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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