A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14338331



Internal ID4340147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3155733..3157385hg38UCSC Ensembl
Innerchr12:3155750..3157369hg38UCSC Ensembl
Outerchr12:3155717..3157402hg38UCSC Ensembl
chr12:3264899..3266551hg19UCSC Ensembl
Innerchr12:3264916..3266535hg19UCSC Ensembl
Outerchr12:3264883..3266568hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381653
hg191653
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628339
Supporting Variants
SamplesHG00533
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14338331
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