A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4269491



Internal ID11552029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7196948..7197003hg38UCSC Ensembl
chr12:7349544..7349599hg19UCSC Ensembl
chr12:7240811..7240866hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1262217
Supporting Variants
SamplesHuRef
Known GenesPEX5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4269491
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