A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752050



Internal ID12638916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77772157..78054167hg38UCSC Ensembl
Innerchr4:78693311..78975321hg19UCSC Ensembl
Innerchr4:78912335..79194345hg18UCSC Ensembl
Innerchr4:79050490..79332500hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38282011
hg19282011
hg18282011
hg17282011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986083, essv6986084, essv6988491, essv6982096, essv6982095
SamplesBEC_519
Known GenesCNOT6L, MRPL1
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)esv2752050
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer