A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980510



Internal ID12635862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151006978..152336978hg38UCSC Ensembl
Innerchr2:151863492..153193492hg19UCSC Ensembl
Innerchr2:151571738..152901738hg18UCSC Ensembl
Innerchr2:151689000..153019000hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381330001
hg191330001
hg181330001
hg171330001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34659
Supporting Variants
SamplesNA19203
Known GenesARL5A, CACNB4, FMNL2, MIR4773-1, MIR4773-2, NEB, NMI, RBM43, RIF1, STAM2, TNFAIP6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980510
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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