A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14514578



Internal ID4516394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64445493..64446356hg38UCSC Ensembl
Innerchr12:64445541..64446309hg38UCSC Ensembl
Outerchr12:64445446..64446404hg38UCSC Ensembl
chr12:64839273..64840136hg19UCSC Ensembl
Innerchr12:64839321..64840089hg19UCSC Ensembl
Outerchr12:64839226..64840184hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629773
Supporting Variants
SamplesHG00881
Known GenesXPOT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14514578
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