A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990384



Internal ID12633739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162134552..162390552hg38UCSC Ensembl
Innerchr1:162104342..162360342hg19UCSC Ensembl
Innerchr1:160370966..160626966hg18UCSC Ensembl
Innerchr1:158836000..159092000hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38256001
hg19256001
hg18256001
hg17256001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34209
Supporting Variants
SamplesNA18576
Known GenesC1orf111, C1orf226, MIR4654, MIR556, NOS1AP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990384
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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