A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980508



Internal ID12635860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150858366..152859880hg38UCSC Ensembl
Innerchr2:151714880..153716394hg19UCSC Ensembl
Innerchr2:151423126..153424640hg18UCSC Ensembl
Innerchr2:151540388..153541902hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg382001515
hg192001515
hg182001515
hg172001515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34659
Supporting Variants
SamplesNA19203
Known GenesARL5A, ARL6IP6, CACNB4, FMNL2, MIR4773-1, MIR4773-2, NEB, NMI, PRPF40A, RBM43, RIF1, STAM2, TNFAIP6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980508
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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