A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981315



Internal ID12626478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128299..31253999hg38UCSC Ensembl
Innerchr12:31281233..31406933hg19UCSC Ensembl
Innerchr12:31172500..31298200hg18UCSC Ensembl
Innerchr12:31172500..31298200hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38125701
hg19125701
hg18125701
hg17125701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751052
Supporting Variants
SamplesBEC_385
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981315
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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