A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979652



Internal ID12633855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129532768..130603882hg38UCSC Ensembl
Innerchr12:130017313..131088427hg19UCSC Ensembl
Innerchr12:128583266..129654380hg18UCSC Ensembl
Innerchr12:128542193..129613307hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381071115
hg191071115
hg181071115
hg171071115
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979652
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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