A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986323



Internal ID12627995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:6523060..6878220hg38UCSC Ensembl
Innerchr9:6523060..6878220hg19UCSC Ensembl
Innerchr9:6513060..6868220hg18UCSC Ensembl
Innerchr9:6513060..6868220hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38355161
hg19355161
hg18355161
hg17355161
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752308
Supporting Variants
SamplesBEC_533
Known GenesGLDC, KDM4C
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986323
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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