A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629657



Internal ID7016478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59462635..59527548hg38UCSC Ensembl
chr12:59856416..59921329hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3864914
hg1964914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14497882
SamplesNA19027
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629657
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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