A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750810



Internal ID12984362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152481193..152688451hg38UCSC Ensembl
Innerchr1:152453669..152660927hg19UCSC Ensembl
Innerchr1:150720293..150927551hg18UCSC Ensembl
Innerchr1:149266742..149474000hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38207259
hg19207259
hg18207259
hg17207259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980784, essv6980783, essv6985409, essv6988316, essv6980785
SamplesBEC_158
Known GenesCRCT1, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE5A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750810
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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