A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983263



Internal ID12628399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32314167..33106481hg38UCSC Ensembl
Innerchr2:32539236..33331548hg19UCSC Ensembl
Innerchr2:32392740..33185052hg18UCSC Ensembl
Innerchr2:32450887..33243199hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38792315
hg19792313
hg18792313
hg17792313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751888
Supporting Variants
SamplesBEC_560
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983263
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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