A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629916



Internal ID6670055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71783025..71889798hg38UCSC Ensembl
chr12:72176805..72283578hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38106774
hg19106774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14528181
SamplesNA18591
Known GenesMRS2P2, RAB21, TBC1D15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629916
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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