A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984349



Internal ID12630160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31072799..31261499hg38UCSC Ensembl
Innerchr12:31225733..31414433hg19UCSC Ensembl
Innerchr12:31117000..31305700hg18UCSC Ensembl
Innerchr12:31117000..31305700hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38188701
hg19188701
hg18188701
hg17188701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751054
Supporting Variants
SamplesBEC_693
Known GenesDDX11, DDX11-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984349
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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