A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981054



Internal ID12626049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32181558..32549850hg38UCSC Ensembl
Innerchr12:32334492..32702784hg19UCSC Ensembl
Innerchr12:32225759..32594051hg18UCSC Ensembl
Innerchr12:32225759..32594051hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38368293
hg19368293
hg18368293
hg17368293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751096
Supporting Variants
SamplesBEC_345
Known GenesBICD1, FGD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981054
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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