A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv253e55



Internal ID20126732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40910..317370hg38UCSC Ensembl
chr9:40910..317370hg19UCSC Ensembl
chr9:30910..307370hg18UCSC Ensembl
chr9:30910..307370hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38276461
hg19276461
hg18276461
hg17276461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34714, esv2752303, esv2752302, esv34610, esv2752301
SamplesBEC_376, BEC_501, BEC_544, NA18572, NA18576
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv253e55
Frequency
Sample Size771
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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