A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980758



Internal ID12625249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135259826..135414504hg38UCSC Ensembl
Innerchr9:138151672..138306350hg19UCSC Ensembl
Innerchr9:137291493..137446171hg18UCSC Ensembl
Innerchr9:135377617..135532295hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38154679
hg19154679
hg18154679
hg17154679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752283
Supporting Variants
SamplesBEC_131
Known GenesC9orf62
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980758
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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