A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438221



Internal ID4440037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32401472..32407015hg38UCSC Ensembl
Innerchr12:32401472..32407015hg38UCSC Ensembl
Outerchr12:32401285..32407230hg38UCSC Ensembl
chr12:32554406..32559949hg19UCSC Ensembl
Innerchr12:32554406..32559949hg19UCSC Ensembl
Outerchr12:32554219..32560164hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385544
hg195544
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629076
Supporting Variants
SamplesHG02111
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438221
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