A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752044



Internal ID12985596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:19786640..20125181hg38UCSC Ensembl
Innerchr4:19788263..20126804hg19UCSC Ensembl
Innerchr4:19397361..19735902hg18UCSC Ensembl
Innerchr4:19464532..19803073hg17UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38338542
hg19338542
hg18338542
hg17338542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989902, essv6984038, essv6984039
SamplesBEC_758
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)esv2752044
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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