A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984237



Internal ID12977915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31152041..31332004hg38UCSC Ensembl
Innerchr13:31726178..31906141hg19UCSC Ensembl
Innerchr13:30624178..30804141hg18UCSC Ensembl
Innerchr13:30624178..30804141hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38179964
hg19179964
hg18179964
hg17179964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751142
Supporting Variants
SamplesBEC_817
Known GenesB3GALTL, HSPH1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984237
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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