A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621966



Internal ID4623782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123628443..123711069hg38UCSC Ensembl
chr12:124112990..124195616hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3882627
hg1982627
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630994
Supporting Variants
SamplesHG02219
Known GenesEIF2B1, GTF2H3, TCTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621966
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer