A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752053



Internal ID12985605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:10123195..10268676hg38UCSC Ensembl
Innerchr4:10124819..10270300hg19UCSC Ensembl
Innerchr4:9733917..9879398hg18UCSC Ensembl
Innerchr4:9801088..9946569hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38145482
hg19145482
hg18145482
hg17145482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988000, essv6981685, essv6981686, essv6981687, essv6981688, essv6989256
SamplesBEC_319
Known Genes
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)esv2752053
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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