A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984516



Internal ID12630439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128299..31261499hg38UCSC Ensembl
Innerchr12:31281233..31414433hg19UCSC Ensembl
Innerchr12:31172500..31305700hg18UCSC Ensembl
Innerchr12:31172500..31305700hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38133201
hg19133201
hg18133201
hg17133201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751065
Supporting Variants
SamplesBEC_714
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984516
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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