A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984953



Internal ID12637108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131786225..132005225hg38UCSC Ensembl
Innerchr12:132270770..132489770hg19UCSC Ensembl
Innerchr12:130836723..131055723hg18UCSC Ensembl
Innerchr12:130937000..131156000hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38219001
hg19219001
hg18219001
hg17219001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751042
Supporting Variants
SamplesSPC_20
Known GenesEP400, MMP17, PUS1, SFSWAP, ULK1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984953
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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