A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989180



Internal ID12635848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150882834..152856539hg38UCSC Ensembl
Innerchr2:151739348..153713053hg19UCSC Ensembl
Innerchr2:151447594..153421299hg18UCSC Ensembl
Innerchr2:151564856..153538561hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381973706
hg191973706
hg181973706
hg171973706
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)essv6989180
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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