A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34208



Internal ID12990247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129528244..130603882hg38UCSC Ensembl
Innerchr12:130012789..131088427hg19UCSC Ensembl
Innerchr12:128578742..129654380hg18UCSC Ensembl
Innerchr12:128537669..129613307hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381075639
hg191075639
hg181075639
hg171075639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990392, essv6979652, essv6979651, essv6986921, essv6986922
SamplesNA18593
Known GenesFZD10, FZD10-AS1, LOC100190940, PIWIL1, RIMBP2, TMEM132D
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34208
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer