A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1197500



Internal ID5327605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13788676..13788773hg38UCSC Ensembl
chr12:13941610..13941707hg19UCSC Ensembl
chr12:13832877..13832974hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3898
hg1998
hg1898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3954337
SamplesHuRef
Known GenesGRIN2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1197500
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