A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986921



Internal ID12633851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129532575..130601575hg38UCSC Ensembl
Innerchr12:130017120..131086120hg19UCSC Ensembl
Innerchr12:128583073..129652073hg18UCSC Ensembl
Innerchr12:128542000..129611000hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381069001
hg191069001
hg181069001
hg171069001
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)essv6986921
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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