A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14508458



Internal ID4293675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61875784..61885065hg38UCSC Ensembl
Innerchr12:61875789..61885060hg38UCSC Ensembl
Outerchr12:61875779..61885070hg38UCSC Ensembl
chr12:62269565..62278846hg19UCSC Ensembl
Innerchr12:62269570..62278841hg19UCSC Ensembl
Outerchr12:62269560..62278851hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg389282
hg199282
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629726
Supporting Variants
SamplesHG03854
Known GenesFAM19A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14508458
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