A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978363



Internal ID12981861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123354475..124296707hg38UCSC Ensembl
Innerchr4:124275630..125217862hg19UCSC Ensembl
Innerchr4:124495080..125437312hg18UCSC Ensembl
Innerchr4:124633235..125575467hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38942233
hg19942233
hg18942233
hg17942233
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)essv6978363
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