A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751096



Internal ID12637962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32127406..32549850hg38UCSC Ensembl
Innerchr12:32280340..32702784hg19UCSC Ensembl
Innerchr12:32171607..32594051hg18UCSC Ensembl
Innerchr12:32171607..32594051hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38422445
hg19422445
hg18422445
hg17422445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981053, essv6988349, essv6985461, essv6981054
SamplesBEC_345
Known GenesBICD1, FGD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751096
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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