A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981501



Internal ID12625540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9272645..9333945hg38UCSC Ensembl
Innerchr1:9332704..9394004hg19UCSC Ensembl
Innerchr1:9255291..9316591hg18UCSC Ensembl
Innerchr1:9266970..9328270hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3861301
hg1961301
hg1861301
hg1761301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750846
Supporting Variants
SamplesBEC_287
Known GenesSPSB1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981501
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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