A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987803



Internal ID12635840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151277978..152012978hg38UCSC Ensembl
Innerchr2:152134492..152869492hg19UCSC Ensembl
Innerchr2:151842738..152577738hg18UCSC Ensembl
Innerchr2:151960000..152695000hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38735001
hg19735001
hg18735001
hg17735001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34659
Supporting Variants
SamplesNA19203
Known GenesARL5A, CACNB4, MIR4773-1, MIR4773-2, NEB, NMI, RIF1, TNFAIP6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987803
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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