A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985746



Internal ID12637278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40724217..40786433hg38UCSC Ensembl
Innerchr12:41118019..41180235hg19UCSC Ensembl
Innerchr12:39404286..39466502hg18UCSC Ensembl
Innerchr12:39404286..39466502hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3862217
hg1962217
hg1862217
hg1762217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751098
Supporting Variants
SamplesSPC_4
Known GenesCNTN1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985746
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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