A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982178



Internal ID12626620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81884725..82112925hg38UCSC Ensembl
Innerchr5:81180544..81408744hg19UCSC Ensembl
Innerchr5:81216300..81444500hg18UCSC Ensembl
Innerchr5:81216300..81444500hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38228201
hg19228201
hg18228201
hg17228201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752082
Supporting Variants
SamplesBEC_40
Known GenesATG10
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982178
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