A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14441692



Internal ID3829289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33351479..33424908hg38UCSC Ensembl
chr12:33504414..33577843hg19UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3873430
hg1973430
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629109
Supporting Variants
SamplesHG03469
Known GenesSYT10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14441692
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