A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980784



Internal ID12625313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152492451..152688451hg38UCSC Ensembl
Innerchr1:152464927..152660927hg19UCSC Ensembl
Innerchr1:150731551..150927551hg18UCSC Ensembl
Innerchr1:149278000..149474000hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38196001
hg19196001
hg18196001
hg17196001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750810
Supporting Variants
SamplesBEC_158
Known GenesCRCT1, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE5A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980784
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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