A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980947



Internal ID12982321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30252860..30398369hg38UCSC Ensembl
Innerchr9:30252858..30398367hg19UCSC Ensembl
Innerchr9:30242858..30388367hg18UCSC Ensembl
Innerchr9:30242858..30388367hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38145510
hg19145510
hg18145510
hg17145510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35141
Supporting Variants
SamplesNA19152
Known GenesLOC401497
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980947
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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