A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4252842



Internal ID11188694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3095406..3095535hg38UCSC Ensembl
chr12:3204572..3204701hg19UCSC Ensembl
chr12:3074833..3074962hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38130
hg19130
hg18130
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1628800
Supporting Variants
SamplesHuRef
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4252842
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