A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987712



Internal ID12637030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:103229788..104038007hg38UCSC Ensembl
Innerchr11:103100517..103908735hg19UCSC Ensembl
Innerchr11:102605727..103413945hg18UCSC Ensembl
Innerchr11:102605727..103413945hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38808220
hg19808219
hg18808219
hg17808219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750977
Supporting Variants
SamplesSPC_193
Known GenesDDI1, DYNC2H1, MIR4693, PDGFD
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987712
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