A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978760



Internal ID12632384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15702220..15790120hg38UCSC Ensembl
Innerchr8:15559729..15647629hg19UCSC Ensembl
Innerchr8:15604100..15692000hg18UCSC Ensembl
Innerchr8:15604100..15692000hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3887901
hg1987901
hg1887901
hg1787901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34951
Supporting Variants
SamplesNA12234
Known GenesTUSC3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978760
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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