A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14434088



Internal ID4435904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31568255..31576615hg38UCSC Ensembl
chr12:31721189..31729549hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg388361
hg198361
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629048
Supporting Variants
SamplesHG03604
Known GenesDENND5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14434088
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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