A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1043456



Internal ID5173563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32810681..32810996hg38UCSC Ensembl
chr12:32963615..32963930hg19UCSC Ensembl
chr12:32854882..32855197hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38316
hg19316
hg18316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3751927
SamplesHuRef
Known GenesPKP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1043456
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer