A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14533749



Internal ID2385395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73417111..73701709hg38UCSC Ensembl
chr12:73810891..74095489hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38284599
hg19284599
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629952
Supporting Variants
SamplesHG02113
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14533749
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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