A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987802



Internal ID12635850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150869278..152860232hg38UCSC Ensembl
Innerchr2:151725792..153716746hg19UCSC Ensembl
Innerchr2:151434038..153424992hg18UCSC Ensembl
Innerchr2:151551300..153542254hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381990955
hg191990955
hg181990955
hg171990955
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987802
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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