A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14400096



Internal ID4625252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18195669..18202715hg38UCSC Ensembl
Innerchr12:18195669..18202715hg38UCSC Ensembl
Outerchr12:18195169..18203215hg38UCSC Ensembl
chr12:18348603..18355649hg19UCSC Ensembl
Innerchr12:18348603..18355649hg19UCSC Ensembl
Outerchr12:18348103..18356149hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387047
hg197047
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628727
Supporting Variants
SamplesHG04158
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14400096
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