A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14434125



Internal ID4435941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31646569..31648924hg38UCSC Ensembl
Innerchr12:31646585..31648909hg38UCSC Ensembl
Outerchr12:31646554..31648940hg38UCSC Ensembl
chr12:31799503..31801858hg19UCSC Ensembl
Innerchr12:31799519..31801843hg19UCSC Ensembl
Outerchr12:31799488..31801874hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382356
hg192356
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629051
Supporting Variants
SamplesNA19917
Known GenesMETTL20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14434125
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