A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985206



Internal ID12636263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100635326..100757869hg38UCSC Ensembl
Innerchr3:100354170..100476713hg19UCSC Ensembl
Innerchr3:101836860..101959403hg18UCSC Ensembl
Innerchr3:101836860..101959403hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38122544
hg19122544
hg18122544
hg17122544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751973
Supporting Variants
SamplesSPC_124
Known GenesABI3BP, GPR128, TFG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985206
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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