A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990392



Internal ID12633865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129528244..130582986hg38UCSC Ensembl
Innerchr12:130012789..131067531hg19UCSC Ensembl
Innerchr12:128578742..129633484hg18UCSC Ensembl
Innerchr12:128537669..129592411hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381054743
hg191054743
hg181054743
hg171054743
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)essv6990392
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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