A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980785



Internal ID12625314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152496451..152687451hg38UCSC Ensembl
Innerchr1:152468927..152659927hg19UCSC Ensembl
Innerchr1:150735551..150926551hg18UCSC Ensembl
Innerchr1:149282000..149473000hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38191001
hg19191001
hg18191001
hg17191001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980785
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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