A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986922



Internal ID12633850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129533575..130582575hg38UCSC Ensembl
Innerchr12:130018120..131067120hg19UCSC Ensembl
Innerchr12:128584073..129633073hg18UCSC Ensembl
Innerchr12:128543000..129592000hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381049001
hg191049001
hg181049001
hg171049001
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)essv6986922
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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