A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14590092



Internal ID6148131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101447545..101467148hg38UCSC Ensembl
Innerchr12:101448045..101466648hg38UCSC Ensembl
Outerchr12:101446545..101468148hg38UCSC Ensembl
chr12:101841323..101860926hg19UCSC Ensembl
Innerchr12:101841823..101860426hg19UCSC Ensembl
Outerchr12:101840323..101861926hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3819604
hg1919604
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630569
Supporting Variants
SamplesNA19681
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14590092
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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