A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980108



Internal ID12634572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69485630..69499630hg38UCSC Ensembl
Innerchr9:72100546..72114546hg19UCSC Ensembl
Innerchr9:71290366..71304366hg18UCSC Ensembl
Innerchr9:69330100..69344100hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3814001
hg1914001
hg1814001
hg1714001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34446
Supporting Variants
SamplesNA18953
Known GenesAPBA1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980108
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