A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14587018



Internal ID4588834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99667492..99710631hg38UCSC Ensembl
Innerchr12:99667492..99710631hg38UCSC Ensembl
Outerchr12:99666992..99711131hg38UCSC Ensembl
chr12:100061270..100104409hg19UCSC Ensembl
Innerchr12:100061270..100104409hg19UCSC Ensembl
Outerchr12:100060770..100104909hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3843140
hg1943140
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630533
Supporting Variants
SamplesNA20287
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14587018
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