A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14517349



Internal ID3992524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66469511..66516023hg38UCSC Ensembl
chr12:66863291..66909803hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3846513
hg1946513
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629805
Supporting Variants
SamplesHG03644
Known GenesGRIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14517349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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