A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14497740



Internal ID4499556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59417980..59610460hg38UCSC Ensembl
chr12:59811761..60004241hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38192481
hg19192481
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629653
Supporting Variants
SamplesNA19027
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14497740
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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