A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984744



Internal ID12636757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47555350..47620450hg38UCSC Ensembl
Innerchr12:47949133..48014233hg19UCSC Ensembl
Innerchr12:46235400..46300500hg18UCSC Ensembl
Innerchr12:46235400..46300500hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3865101
hg1965101
hg1865101
hg1765101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751101
Supporting Variants
SamplesSPC_173
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984744
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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