A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984529



Internal ID12630458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128312..31253973hg38UCSC Ensembl
Innerchr12:31281246..31406907hg19UCSC Ensembl
Innerchr12:31172513..31298174hg18UCSC Ensembl
Innerchr12:31172513..31298174hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38125662
hg19125662
hg18125662
hg17125662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751051
Supporting Variants
SamplesBEC_715
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984529
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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