A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981053



Internal ID12626044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32127406..32508284hg38UCSC Ensembl
Innerchr12:32280340..32661218hg19UCSC Ensembl
Innerchr12:32171607..32552485hg18UCSC Ensembl
Innerchr12:32171607..32552485hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38380879
hg19380879
hg18380879
hg17380879
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981053
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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