A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985213



Internal ID12636275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232459519..233240519hg38UCSC Ensembl
Innerchr1:232595265..233376265hg19UCSC Ensembl
Innerchr1:230661888..231442888hg18UCSC Ensembl
Innerchr1:228902000..229683000hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38781001
hg19781001
hg18781001
hg17781001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750829
Supporting Variants
SamplesSPC_127
Known GenesMAP10, NTPCR, PCNXL2, SIPA1L2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985213
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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