A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979651



Internal ID12633854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129532768..130601428hg38UCSC Ensembl
Innerchr12:130017313..131085973hg19UCSC Ensembl
Innerchr12:128583266..129651926hg18UCSC Ensembl
Innerchr12:128542193..129610853hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381068661
hg191068661
hg181068661
hg171068661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34208
Supporting Variants
SamplesNA18593
Known GenesFZD10, FZD10-AS1, LOC100190940, PIWIL1, RIMBP2, TMEM132D
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979651
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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