A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986842



Internal ID12633380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131312710..131529661hg38UCSC Ensembl
Innerchr12:131797255..132014206hg19UCSC Ensembl
Innerchr12:130363208..130580159hg18UCSC Ensembl
Innerchr12:130322135..130539086hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38216952
hg19216952
hg18216952
hg17216952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34554
Supporting Variants
SamplesNA18537
Known GenesLOC338797
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986842
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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