A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630784



Internal ID7017599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112710318..112715613hg38UCSC Ensembl
Innerchr12:112710318..112715613hg38UCSC Ensembl
Outerchr12:112710232..112715774hg38UCSC Ensembl
chr12:113148123..113153418hg19UCSC Ensembl
Innerchr12:113148123..113153418hg19UCSC Ensembl
Outerchr12:113148037..113153579hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg385296
hg195296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14606239
SamplesNA18947
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630784
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