A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978362



Internal ID12981835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123354240..124296240hg38UCSC Ensembl
Innerchr4:124275395..125217395hg19UCSC Ensembl
Innerchr4:124494845..125436845hg18UCSC Ensembl
Innerchr4:124633000..125575000hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38942001
hg19942001
hg18942001
hg17942001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34581
Supporting Variants
SamplesNA19007
Known GenesLINC01091, SPRY1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978362
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